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Variant : CV235242 (NM_024675.3(PALB2):c.2147A>G (p.Asn716Ser)) Homo sapiens

Symbol: CV235242
Name: NM_024675.3(PALB2):c.2147A>G (p.Asn716Ser)
Condition: Familial cancer of breast [RCV000458608]|Hereditary cancer-predisposing syndrome [RCV000214302]|Papillary thyroid carcinoma [RCV000761167]
Clinical Significance: uncertain significance
Last Evaluated: 12/10/2018
Review Status: criteria provided, single submitter|no assertion criteria provided
Related Genes: PALB2  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_024675.3:c.2147A>G
LRG_308t1:c.2147A>G
LRG_308:g.16351A>G
NG_007406.1:g.16351A>G
NC_000016.10:g.23630007T>C
NC_000016.9:g.23641328T>C
LRG_308p1:p.Asn716Ser
NP_078951.2:p.Asn716Ser
Position
Human AssemblyChrPosition (strand)Source
GRCh381623,630,007 - 23,630,007CLINVAR
GRCh371623,641,328 - 23,641,328CLINVAR
Cytogenetic Map1616p12.2CLINVAR
Trait Synonyms: Breast cancer, familial; Cancer predisposition; CHEK2-Related Breast Cancer; FAMILIAL NONMEDULLARY THYROID CANCER, PAPILLARY; Neoplastic Syndromes, Hereditary; NONMEDULLARY THYROID CARCINOMA, PAPILLARY; Papillary carcinoma of thyroid; Thyroid cancer, papillary; Thyroid carcinoma, papillary, somatic; Tumor predisposition
Age Of Onset: adult



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11089031
Created: 2016-06-07
Species: Homo sapiens
Last Modified: 2020-08-04
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.