NM_003742.4(ABCB11):c.2495G>A (p.Arg832His) AND Malignant tumor of breast

delete

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 27, 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:: RCV004526713.1

Allele description

NM_003742.4(ABCB11):c.2495G>A (p.Arg832His)

Gene:

ABCB11:ATP binding cassette subfamily B member 11 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.1

Genomic location:

Preferred name:

NM_003742.4(ABCB11):c.2495G>A (p.Arg832His)

HGVS:

NC_000002.12:g.168944720C>T
NG_007374.2:g.91677G>A
NM_003742.4:c.2495G>AMANE SELECT
NP_003733.2:p.Arg832His
LRG_1199t1:c.2495G>A
LRG_1199:g.91677G>A
LRG_1199p1:p.Arg832His
NC_000002.11:g.169801230C>T
NG_007374.1:g.91604G>A

Protein change:

R832H

Links:

dbSNP: rs376255350

NCBI 1000 Genomes Browser:

rs376255350

Molecular consequence:

NM_003742.4:c.2495G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Malignant tumor of breast
Synonyms:: Malignant breast neoplasm; Cancer breast
Identifiers:: MONDO: MONDO:0007254; MedGen: C0006142

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005040640	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Likely pathogenic (Mar 27, 2024)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 34016879, 20683201, 33915153, 37471416, 28425419 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005040640

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Likely pathogenic
(Mar 27, 2024)

germline

clinical testing

PubMed (5)
[See all records that cite these PMIDs]

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

Citations

PubMed

Mutation Analysis and Disease Features at Presentation in a Multi-Center Cohort of Children With Monogenic Cholestasis.

Hertel PM, Bull LN, Thompson RJ, Goodrich NP, Ye W, Magee JC, Squires RH, Bass LM, Heubi JE, Kim GE, Ranganathan S, Schwarz KB, Bozic MA, Horslen SP, Clifton MS, Turmelle YP, Suchy FJ, Superina RA, Wang KS, Loomes KM, Kamath BM, Sokol RJ, et al.

J Pediatr Gastroenterol Nutr. 2021 Aug 1;73(2):169-177. doi: 10.1097/MPG.0000000000003153.

PubMed [citation]

PMID:: 34016879
PMCID:: PMC8373673

Analysis of gene mutations in children with cholestasis of undefined etiology.

Matte U, Mourya R, Miethke A, Liu C, Kauffmann G, Moyer K, Zhang K, Bezerra JA.

J Pediatr Gastroenterol Nutr. 2010 Oct;51(4):488-493. doi: 10.1097/MPG.0b013e3181dffe8f.

PubMed [citation]

PMID:: 20683201
PMCID:: PMC4090691

See all PubMed Citations (5)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV005040640.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

Description

Variant summary: ATM c.2495G>A (p.Arg832His) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 4.5e-05 in 291700 control chromosomes. This frequency is not significantly higher than expected for a pathogenic variant in ATM causing Breast Cancer (4.5e-05 vs 0.001), allowing no conclusion about variant significance. c.2495G>A has been reported in the literature in individuals affected with Breast Cancer. These report(s) do not provide unequivocal conclusions about association of the variant with Breast Cancer. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Four clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

#	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: Jul 15, 2024

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