NM_005431.2(XRCC2):c.677dup (p.Tyr226Ter) AND Hereditary breast ovarian cancer syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 27, 2019
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:: RCV000787936.1

Allele description [Variation Report for NM_005431.2(XRCC2):c.677dup (p.Tyr226Ter)]

NM_005431.2(XRCC2):c.677dup (p.Tyr226Ter)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

7q36.1

Genomic location:

Preferred name:

NM_005431.2(XRCC2):c.677dup (p.Tyr226Ter)

HGVS:

NC_000007.14:g.152648808dup
NG_027988.2:g.32358dup
NM_005431.1:c.677dupA
NM_005431.2:c.677dupMANE SELECT
NP_005422.1:p.Tyr226Ter
LRG_323t1:c.677dup
LRG_323:g.32358dup
LRG_323p1:p.Tyr226Ter
NC_000007.13:g.152345893dup
NG_027988.1:g.32358dup
NM_005431.2:c.677dupAMANE SELECT

Protein change:

Y226*

Links:

dbSNP: rs1590129294

NCBI 1000 Genomes Browser:

rs1590129294

Molecular consequence:

NM_005431.2:c.677dup - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Name:: Hereditary breast ovarian cancer syndrome
Synonyms:: Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000926955	Genomics Laboratory, Virgen de la Arrixaca University Clinical Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (May 27, 2019)	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

SCV000926955

Genomics Laboratory, Virgen de la Arrixaca University Clinical Hospital

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(May 27, 2019)

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
Caucasian	germline	yes	1	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 Genomics Laboratory, Virgen de la Arrixaca University Clinical Hospital, SCV000926955.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Caucasian	1	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	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Jul 15, 2024

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