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NM_003579.4(RAD54L):c.973G>A (p.Gly325Arg) AND Breast ductal adenocarcinoma

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 3, 1999
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000006570.2

Allele description [Variation Report for NM_003579.4(RAD54L):c.973G>A (p.Gly325Arg)]

NM_003579.4(RAD54L):c.973G>A (p.Gly325Arg)

Gene:
RAD54L:RAD54 like [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p34.1
Genomic location:
Preferred name:
NM_003579.4(RAD54L):c.973G>A (p.Gly325Arg)
HGVS:
  • NC_000001.11:g.46267540G>A
  • NG_012144.1:g.24846G>A
  • NM_001142548.2:c.973G>A
  • NM_001370766.1:c.433G>A
  • NM_003579.4:c.973G>AMANE SELECT
  • NP_001136020.1:p.Gly325Arg
  • NP_001357695.1:p.Gly145Arg
  • NP_003570.2:p.Gly325Arg
  • LRG_1414t1:c.973G>A
  • LRG_1414:g.24846G>A
  • LRG_1414p1:p.Gly325Arg
  • NC_000001.10:g.46733212G>A
  • Q92698:p.Gly325Arg
Protein change:
G145R; GLY325ARG
Links:
UniProtKB: Q92698#VAR_019561; OMIM: 603615.0003; dbSNP: rs121908690
NCBI 1000 Genomes Browser:
rs121908690
Molecular consequence:
  • NM_001142548.2:c.973G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370766.1:c.433G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003579.4:c.973G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Breast ductal adenocarcinoma
Synonyms:
Ductal breast carcinoma; Breast cancer, invasive ductal
Identifiers:
MONDO: MONDO:0005590; MedGen: C1527349

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000026753OMIM
no assertion criteria provided
Pathogenic
(Jun 3, 1999) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mutations in the RAD54 recombination gene in primary cancers.

Matsuda M, Miyagawa K, Takahashi M, Fukuda T, Kataoka T, Asahara T, Inui H, Watatani M, Yasutomi M, Kamada N, Dohi K, Kamiya K.

Oncogene. 1999 Jun 3;18(22):3427-30.

PubMed [citation]
PMID:
10362365

Details of each submission

From OMIM, SCV000026753.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In one of 95 breast cancers studied, Matsuda et al. (1999) found a G-to-A transition in the RAD54L gene converting gly to arg at codon 325 within helicase motif III. The absence of the wildtype allele indicated that the tumor was homozygous (or hemizygous) for the mutation. The corresponding normal tissue showed the same transition, indicating that this was a germline mutation. A restriction-based screen, developed from the fact that the gly325-to-arg mutation abolished an AccIII site, revealed that this mutation was absent in 100 normal individuals. The patient in this case was a 63-year-old woman with no obvious family history of cancer.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 14, 2024