NM_000059.4(BRCA2):c.700_701delinsAT (p.Ser234Ile) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 22, 2018
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:: RCV001025910.3

Allele description [Variation Report for NM_000059.4(BRCA2):c.700_701delinsAT (p.Ser234Ile)]

NM_000059.4(BRCA2):c.700_701delinsAT (p.Ser234Ile)

Gene:

BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

13q13.1

Genomic location:

Preferred name:

NM_000059.4(BRCA2):c.700_701delinsAT (p.Ser234Ile)

HGVS:

NC_000013.11:g.32330937_32330938delinsAT
NG_012772.3:g.20458_20459delinsAT
NM_000059.4:c.700_701delinsATMANE SELECT
NP_000050.3:p.Ser234Ile
LRG_293t1:c.700_701delTCinsAT
LRG_293:g.20458_20459delinsAT
NC_000013.10:g.32905074_32905075delinsAT
NM_000059.3:c.700_701delTCinsAT

Protein change:

S234I

Links:

dbSNP: rs1593890127

NCBI 1000 Genomes Browser:

rs1593890127

Molecular consequence:

NM_000059.4:c.700_701delinsAT - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001188190	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jan 22, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001188190

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jan 22, 2018)

germline

clinical testing

Citation Link

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

Details of each submission

From Ambry Genetics, SCV001188190.4

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

Description

The c.700_701delTCinsAT variant, located in coding exon 8 of the BRCA2 gene, results from an in-frame deletion of TC and insertion of AT at nucleotide positions 700 to 701. This results in the substitution of the serine residue for an isoleucine residue at codon 234, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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: Sep 1, 2024

ClinVar

Relating variation to medicine