NM_000380.4(XPA):c.631C>T (p.Arg211Ter) AND Xeroderma pigmentosum group A

Germline classification:: Pathogenic/Likely pathogenic (3 submissions)
Last evaluated:: Mar 20, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000666956.4

Allele description [Variation Report for NM_000380.4(XPA):c.631C>T (p.Arg211Ter)]

NM_000380.4(XPA):c.631C>T (p.Arg211Ter)

Gene:

XPA:XPA, DNA damage recognition and repair factor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q22.33

Genomic location:

Preferred name:

NM_000380.4(XPA):c.631C>T (p.Arg211Ter)

HGVS:

NC_000009.12:g.97684965G>A
NG_011642.1:g.17445C>T
NM_000380.4:c.631C>TMANE SELECT
NM_001354975.2:c.505C>T
NP_000371.1:p.Arg211Ter
NP_000371.1:p.Arg211Ter
NP_001341904.1:p.Arg169Ter
LRG_471t1:c.631C>T
LRG_471:g.17445C>T
LRG_471p1:p.Arg211Ter
NC_000009.11:g.100447247G>A
NM_000380.3:c.631C>T
NR_027302.2:n.679C>T
NR_149091.2:n.407C>T
NR_149092.2:n.573C>T
NR_149093.2:n.679C>T
NR_149094.2:n.573C>T

Protein change:

R169*

Links:

dbSNP: rs149226993

NCBI 1000 Genomes Browser:

rs149226993

Molecular consequence:

NR_027302.2:n.679C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_149091.2:n.407C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_149092.2:n.573C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_149093.2:n.679C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_149094.2:n.573C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_000380.4:c.631C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001354975.2:c.505C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Xeroderma pigmentosum group A (XPA)
Synonyms:: Xeroderma pigmentosum, complementation group A; XP, group A
Identifiers:: MONDO: MONDO:0010210; MedGen: C0268135; Orphanet: 910; OMIM: 278700

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000791333	Counsyl	no assertion criteria provided	Likely pathogenic (May 9, 2017)	unknown	clinical testing	PubMed (4) [See all records that cite these PMIDs] 1372103, 27607234, 9671271, 15214909
SCV004206939	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Oct 30, 2023)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV005682080	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Mar 20, 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

SCV000791333

Counsyl

no assertion criteria provided

Likely pathogenic
(May 9, 2017)

unknown

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

SCV004206939

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Oct 30, 2023)

unknown

clinical testing

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

SCV005682080

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Mar 20, 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
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Identification of splicing mutations of the last nucleotides of exons, a nonsense mutation, and a missense mutation of the XPAC gene as causes of group A xeroderma pigmentosum.

Satokata I, Tanaka K, Yuba S, Okada Y.

Mutat Res. 1992 Mar;273(2):203-12.

PubMed [citation]

PMID:: 1372103

Clinical and molecular epidemiological study of xeroderma pigmentosum in China: A case series of 19 patients.

Zhou EY, Wang H, Lin Z, Xu G, Ma Z, Zhao J, Feng C, Duo L, Yin J, Yang Y.

J Dermatol. 2017 Jan;44(1):71-75. doi: 10.1111/1346-8138.13576. Epub 2016 Sep 8.

PubMed [citation]

PMID:: 27607234

See all PubMed Citations (5)

Details of each submission

From Counsyl, SCV000791333.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

This submission and the accompanying classification are no longer maintained by the submitter. For more information on current observations and classification, please contact variantquestions@myriad.com.

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

From Baylor Genetics, SCV004206939.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Fulgent Genetics, Fulgent Genetics, SCV005682080.1

#	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: Jun 29, 2025

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