NM_001271696.3(ABCB7):c.121T>C (p.Trp41Arg) AND ABCB7-related disorder

Germline classification:: Likely benign (1 submission)
Last evaluated:: Aug 11, 2020
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV003955187.2

Allele description [Variation Report for NM_001271696.3(ABCB7):c.121T>C (p.Trp41Arg)]

NM_001271696.3(ABCB7):c.121T>C (p.Trp41Arg)

Genes:

LOC130068449:ATAC-STARR-seq lymphoblastoid active region 29770 [Gene]
ABCB7:ATP binding cassette subfamily B member 7 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq13.3

Genomic location:

Preferred name:

NM_001271696.3(ABCB7):c.121T>C (p.Trp41Arg)

Other names:

p.W41R:TGG>CGG

HGVS:

NC_000023.11:g.75156152A>G
NG_007980.3:g.5132T>C
NG_015972.2:g.4774A>G
NM_001271696.3:c.121T>CMANE SELECT
NM_001271697.3:c.121T>C
NM_001271698.3:c.121T>C
NM_001271699.3:c.121T>C
NM_004299.6:c.121T>C
NP_001258625.1:p.Trp41Arg
NP_001258626.1:p.Trp41Arg
NP_001258627.1:p.Trp41Arg
NP_001258628.1:p.Trp41Arg
NP_004290.2:p.Trp41Arg
LRG_1162t1:c.121T>C
LRG_1162t2:c.121T>C
LRG_1162:g.5132T>C
LRG_1162p1:p.Trp41Arg
LRG_1162p2:p.Trp41Arg
NC_000023.10:g.74375987A>G
NG_007980.2:g.5581T>C
NM_004299.3:c.121T>C
NM_004299.4:c.121T>C

Protein change:

W41R

Links:

dbSNP: rs143380072

NCBI 1000 Genomes Browser:

rs143380072

Molecular consequence:

NM_001271696.3:c.121T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001271697.3:c.121T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001271698.3:c.121T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001271699.3:c.121T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_004299.6:c.121T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: ABCB7-related disorder
Synonyms:: ABCB7-related condition
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004785165	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Likely benign (Aug 11, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004785165

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Likely benign
(Aug 11, 2020)

germline

clinical testing

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 PreventionGenetics, part of Exact Sciences, SCV004785165.2

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

Description

This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

#	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: Oct 13, 2024

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