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NM_000059.4(BRCA2):c.7007G>C (p.Arg2336Pro) AND Fanconi anemia complementation group D1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 11, 2020
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001269283.10

Allele description [Variation Report for NM_000059.4(BRCA2):c.7007G>C (p.Arg2336Pro)]

NM_000059.4(BRCA2):c.7007G>C (p.Arg2336Pro)

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.4(BRCA2):c.7007G>C (p.Arg2336Pro)
HGVS:
  • NC_000013.11:g.32346896G>C
  • NG_012772.3:g.36417G>C
  • NM_000059.4:c.7007G>CMANE SELECT
  • NP_000050.2:p.Arg2336Pro
  • NP_000050.3:p.Arg2336Pro
  • LRG_293t1:c.7007G>C
  • LRG_293:g.36417G>C
  • LRG_293p1:p.Arg2336Pro
  • NC_000013.10:g.32921033G>C
  • NM_000059.3:c.7007G>C
  • U43746.1:n.7235G>C
Nucleotide change:
7235G>C
Protein change:
R2336P
Links:
dbSNP: rs28897743
NCBI 1000 Genomes Browser:
rs28897743
Molecular consequence:
  • NM_000059.4:c.7007G>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Fanconi anemia complementation group D1
Identifiers:
MONDO: MONDO:0011584; MedGen: C1838457; OMIM: 605724

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001448627Daryl Scott Lab, Baylor College of Medicine
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Nov 11, 2020) 		maternalclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes1not providednot providednot providednot 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

Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH.

Scott TM, Campbell IM, Hernandez-Garcia A, Lalani SR, Liu P, Shaw CA, Rosenfeld JA, Scott DA.

J Med Genet. 2022 Mar;59(3):270-278. doi: 10.1136/jmedgenet-2020-107317. Epub 2021 Jan 18.

PubMed [citation]
PMID:
33461977
PMCID:
PMC8286264

Details of each submission

From Daryl Scott Lab, Baylor College of Medicine, SCV001448627.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 3, 2024