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NM_005432.4(XRCC3):c.623G>A (p.Arg208His) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 31, 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:
RCV004293705.1

Allele description [Variation Report for NM_005432.4(XRCC3):c.623G>A (p.Arg208His)]

NM_005432.4(XRCC3):c.623G>A (p.Arg208His)

Genes:
XRCC3:X-ray repair cross complementing 3 [Gene - OMIM - HGNC]
KLC1:kinesin light chain 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q32.33
Genomic location:
Preferred name:
NM_005432.4(XRCC3):c.623G>A (p.Arg208His)
HGVS:
  • NC_000014.9:g.103699515C>T
  • NG_011516.1:g.20972G>A
  • NG_012307.1:g.75328C>T
  • NM_001100118.2:c.623G>A
  • NM_001100119.2:c.623G>A
  • NM_001130107.2:c.1782-1140C>T
  • NM_001371229.1:c.623G>A
  • NM_001371231.1:c.623G>A
  • NM_001371232.1:c.623G>A
  • NM_001394832.1:c.1924-1140C>T
  • NM_001394834.1:c.1897-1140C>T
  • NM_001394836.1:c.1857-1140C>T
  • NM_001394837.1:c.1849-1140C>TMANE SELECT
  • NM_001394839.1:c.1830-1140C>T
  • NM_001394840.1:c.1822-1140C>T
  • NM_001394842.1:c.1779-1140C>T
  • NM_001394843.1:c.1776-1140C>T
  • NM_001394844.1:c.1755-1140C>T
  • NM_001394846.1:c.1726-1140C>T
  • NM_001394848.1:c.1699-1140C>T
  • NM_001394851.1:c.1645-1140C>T
  • NM_001394852.1:c.1624-1140C>T
  • NM_005432.4:c.623G>AMANE SELECT
  • NM_182923.4:c.1651-1140C>T
  • NP_001093588.1:p.Arg208His
  • NP_001093589.1:p.Arg208His
  • NP_001358158.1:p.Arg208His
  • NP_001358160.1:p.Arg208His
  • NP_001358161.1:p.Arg208His
  • NP_005423.1:p.Arg208His
  • NC_000014.8:g.104165852C>T
  • NM_005432.3:c.623G>A
Protein change:
R208H
Molecular consequence:
  • NM_001130107.2:c.1782-1140C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001394832.1:c.1924-1140C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001394834.1:c.1897-1140C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001394836.1:c.1857-1140C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001394837.1:c.1849-1140C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001394839.1:c.1830-1140C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001394840.1:c.1822-1140C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001394842.1:c.1779-1140C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001394843.1:c.1776-1140C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001394844.1:c.1755-1140C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001394846.1:c.1726-1140C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001394848.1:c.1699-1140C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001394851.1:c.1645-1140C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001394852.1:c.1624-1140C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_182923.4:c.1651-1140C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001100118.2:c.623G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001100119.2:c.623G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371229.1:c.623G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371231.1:c.623G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371232.1:c.623G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005432.4:c.623G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003946860Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 31, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV003946860.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.623G>A (p.R208H) alteration is located in exon 8 (coding exon 5) of the XRCC3 gene. This alteration results from a G to A substitution at nucleotide position 623, causing the arginine (R) at amino acid position 208 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 3, 2024