NM_007294.4(BRCA1):c.5152T>G (p.Trp1718Gly) AND Hereditary cancer-predisposing syndrome

Clinical significance:Uncertain significance (Last evaluated: Mar 14, 2019)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000772239.3

Allele description [Variation Report for NM_007294.4(BRCA1):c.5152T>G (p.Trp1718Gly)]

NM_007294.4(BRCA1):c.5152T>G (p.Trp1718Gly)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.5152T>G (p.Trp1718Gly)
HGVS:
  • NC_000017.11:g.43063874A>C
  • NG_005905.2:g.154110T>G
  • NM_007294.3:c.5152T>G
  • NM_007294.4:c.5152T>GMANE SELECT
  • NM_007297.4:c.5011T>G
  • NM_007298.3:c.1840T>G
  • NM_007299.4:c.1840T>G
  • NM_007300.4:c.5215T>G
  • NP_009225.1:p.Trp1718Gly
  • NP_009225.1:p.Trp1718Gly
  • NP_009228.2:p.Trp1671Gly
  • NP_009229.2:p.Trp614Gly
  • NP_009230.2:p.Trp614Gly
  • NP_009231.2:p.Trp1739Gly
  • LRG_292t1:c.5152T>G
  • LRG_292:g.154110T>G
  • LRG_292p1:p.Trp1718Gly
  • NC_000017.10:g.41215891A>C
  • NR_027676.2:n.5329T>G
Protein change:
W1671G
Links:
dbSNP: rs1567769155
NCBI 1000 Genomes Browser:
rs1567769155
Molecular consequence:
  • NM_007294.3:c.5152T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.5152T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.5011T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.3:c.1840T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.1840T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.5215T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.5329T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Functional consequence:
functionally_abnormal [Sequence Ontology: SO:0002218] - Comment(s)
Observations:
1

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MedGen: C0027672

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000905357Color Health, Inccriteria provided, single submitter
Uncertain significance
(Mar 14, 2019)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV001185534Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Dec 22, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Color Health, Inc, SCV000905357.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Ambry Genetics, SCV001185534.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The c.5152T>G variant (also known as p.W1718G), located in coding exon 16 of the BRCA1 gene, results from a T to G substitution at nucleotide position 5152. The amino acid change results in tryptophan to glycine at codon 1718, an amino acid with highly dissimilar properties. However, this change occurs in the last base pair of coding exon 16, which makes it likely to have some effect on normal mRNA splicing. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Nov 10, 2021

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