NM_001184.4(ATR):c.992A>G (p.Asp331Gly) AND Familial cancer of breast

Clinical significance:Uncertain significance (Last evaluated: Apr 8, 2020)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001005028.2

Allele description [Variation Report for NM_001184.4(ATR):c.992A>G (p.Asp331Gly)]

NM_001184.4(ATR):c.992A>G (p.Asp331Gly)

Gene:
ATR:ATR serine/threonine kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q23
Genomic location:
Preferred name:
NM_001184.4(ATR):c.992A>G (p.Asp331Gly)
HGVS:
  • NC_000003.12:g.142562410T>C
  • NG_008951.1:g.21417A>G
  • NM_001184.4:c.992A>GMANE SELECT
  • NM_001354579.2:c.992A>G
  • NP_001175.2:p.Asp331Gly
  • NP_001341508.1:p.Asp331Gly
  • LRG_1403t1:c.992A>G
  • LRG_1403:g.21417A>G
  • LRG_1403p1:p.Asp331Gly
  • NC_000003.11:g.142281252T>C
  • NM_001184.3:c.992A>G
Protein change:
D331G
Links:
dbSNP: rs150008448
NCBI 1000 Genomes Browser:
rs150008448
Molecular consequence:
  • NM_001184.4:c.992A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354579.2:c.992A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Familial cancer of breast
Synonyms:
Breast cancer, familial; CHEK2-Related Breast Cancer
Identifiers:
MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000987287Center of Medical Genetics and Primary Health Careno assertion criteria providedUncertain significance
(Apr 8, 2020)
germlineresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedresearch

Details of each submission

From Center of Medical Genetics and Primary Health Care, SCV000987287.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedresearchnot provided

Description

ACMG Guidelines 2015 criteria PP4 Pathogenic Supporting: The patient has family history of breast cancer BS1 Benign Strong: GnomAD exomes allele frequency = 0.0014 > 0.000388 derived from the 207 clinically reported variants in gene ATR of which 6 PATH, 97 VUS and 104 BEN. BP1 Benign Supporting: 32 out of 32 non-VUS missense variants in gene ATR are BEN = 100.0% > threshold of 51.0%, and 104 out of 207 clinically reported variants in gene ATR are BEN = 50.2% > threshold of 24.0%. BP4 Benign Supporting: 10 benign predictions from DANN, DEOGEN2, EIGEN, FATHMM-MKL, M-CAP, MVP, MutationAssessor, MutationTaster, REVEL and SIFT vs no pathogenic predictions and the position is not conserved. Therefore, there is insufficient information and this variant was classified as a Variant of Unknown Significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Aug 25, 2021

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