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NM_005732.4(RAD50):c.3420G>A (p.Met1140Ile) AND Familial cancer of breast

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 18, 2023
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:
RCV003314607.2

Allele description [Variation Report for NM_005732.4(RAD50):c.3420G>A (p.Met1140Ile)]

NM_005732.4(RAD50):c.3420G>A (p.Met1140Ile)

Genes:
RAD50:RAD50 double strand break repair protein [Gene - OMIM - HGNC]
TH2LCRR:T helper type 2 locus control region associated RNA [Gene - HGNC]
TH2-LCR:Th2 cytokine locus control region [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
5q31.1
Genomic location:
Preferred name:
NM_005732.4(RAD50):c.3420G>A (p.Met1140Ile)
HGVS:
  • NC_000005.10:g.132637145G>A
  • NG_021151.2:g.85169G>A
  • NG_042308.1:g.7983G>A
  • NM_005732.4:c.3420G>AMANE SELECT
  • NP_005723.2:p.Met1140Ile
  • LRG_312t1:c.3420G>A
  • LRG_312:g.85169G>A
  • LRG_312p1:p.Met1140Ile
  • NC_000005.9:g.131972837G>A
  • NG_021151.1:g.85222G>A
  • NM_005732.3:c.3420G>A
Protein change:
M1140I
Links:
dbSNP: rs748377319
NCBI 1000 Genomes Browser:
rs748377319
Molecular consequence:
  • NM_005732.4:c.3420G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Familial cancer of breast
Synonyms:
Breast cancer, familial; Hereditary breast cancer
Identifiers:
MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004013447KCCC/NGS Laboratory, Kuwait Cancer Control Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jul 18, 2023) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not 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

Details of each submission

From KCCC/NGS Laboratory, Kuwait Cancer Control Center, SCV004013447.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (1)

Description

This sequence change replaces Methionine with isoleucine at codon 1140 of the RAD50 protein (p.Met1140Ile). This amino acid position is highly conserved (PhyloP=9.48) .This variant is present in population databases (rs748377319, gnomAD 0.03%). ClinVar contains an entry for this variant (Variation ID: 457449) by two diagnostic lab both classify this variant as uncertain significance . Functional study not available for this variant .In-silico predictions show pathogenic computational verdict (SIFT: "Deleterious"Íž PolyPhen-2: "Probably Damaging") In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Sep 29, 2024