NM_001271696.3(ABCB7):c.2063G>A (p.Gly688Asp) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 31, 2022
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:: RCV002823307.2

Allele description [Variation Report for NM_001271696.3(ABCB7):c.2063G>A (p.Gly688Asp)]

NM_001271696.3(ABCB7):c.2063G>A (p.Gly688Asp)

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.2063G>A (p.Gly688Asp)

HGVS:

NC_000023.11:g.75053566C>T
NG_007980.3:g.107718G>A
NM_001271696.3:c.2063G>AMANE SELECT
NM_001271697.3:c.1943G>A
NM_001271698.3:c.1985G>A
NM_001271699.3:c.1946G>A
NM_004299.6:c.2066G>A
NP_001258625.1:p.Gly688Asp
NP_001258626.1:p.Gly648Asp
NP_001258627.1:p.Gly662Asp
NP_001258628.1:p.Gly649Asp
NP_004290.2:p.Gly689Asp
LRG_1162t1:c.2066G>A
LRG_1162t2:c.2063G>A
LRG_1162:g.107718G>A
LRG_1162p1:p.Gly689Asp
LRG_1162p2:p.Gly688Asp
NC_000023.10:g.74273401C>T
NM_004299.3:c.2066G>A

Protein change:

G648D

Molecular consequence:

NM_001271696.3:c.2063G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001271697.3:c.1943G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001271698.3:c.1985G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001271699.3:c.1946G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_004299.6:c.2066G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003607334	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Mar 31, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003607334

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Mar 31, 2022)

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, SCV003607334.2

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

Description

The c.2066G>A (p.G689D) alteration is located in exon 16 (coding exon 16) of the ABCB7 gene. This alteration results from a G to A substitution at nucleotide position 2066, causing the glycine (G) at amino acid position 689 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, 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: May 1, 2024

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