NM_005431.2(XRCC2):c.773G>A (p.Arg258His) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 17, 2024
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:: RCV005031609.1

Allele description [Variation Report for NM_005431.2(XRCC2):c.773G>A (p.Arg258His)]

NM_005431.2(XRCC2):c.773G>A (p.Arg258His)

Gene:

XRCC2:X-ray repair cross complementing 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q36.1

Genomic location:

Preferred name:

NM_005431.2(XRCC2):c.773G>A (p.Arg258His)

Other names:

p.R258H:CGT>CAT

HGVS:

NC_000007.14:g.152648712C>T
NG_027988.2:g.32454G>A
NM_005431.2:c.773G>AMANE SELECT
NP_005422.1:p.Arg258His
LRG_323t1:c.773G>A
LRG_323:g.32454G>A
LRG_323p1:p.Arg258His
NC_000007.13:g.152345797C>T
NG_027988.1:g.32454G>A
NM_005431.1:c.773G>A

Protein change:

R258H

Links:

dbSNP: rs149186933

Molecular consequence:

NM_005431.2:c.773G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Fanconi anemia complementation group U
Identifiers:: MONDO: MONDO:0014987; MedGen: C4310651; OMIM: 617247

Name:: Spermatogenic failure 50
Synonyms:: Spermatogenic failures 50
Identifiers:: MONDO: MONDO:0030869; MedGen: C5436888; OMIM: 619145

Name:: Premature ovarian failure 17
Identifiers:: MONDO: MONDO:0030870; MedGen: C5436889; OMIM: 619146

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005667300	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jun 17, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005667300

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jun 17, 2024)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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 Fulgent Genetics, Fulgent Genetics, SCV005667300.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 12, 2026

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