NM_080284.3(ABCA6):c.3141A>G (p.Leu1047=) AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Mar 1, 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:: RCV003421447.10

Allele description [Variation Report for NM_080284.3(ABCA6):c.3141A>G (p.Leu1047=)]

NM_080284.3(ABCA6):c.3141A>G (p.Leu1047=)

Gene:

ABCA6:ATP binding cassette subfamily A member 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q24.2

Genomic location:

Preferred name:

NM_080284.3(ABCA6):c.3141A>G (p.Leu1047=)

HGVS:

NC_000017.11:g.69096781T>C
NM_080284.3:c.3141A>GMANE SELECT
NP_525023.2:p.Leu1047=
NC_000017.10:g.67092922T>C

Molecular consequence:

NM_080284.3:c.3141A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

BB461843 RIKEN full-length enriched, 12 days embryo spinal ganglion Mus musculus...
BB461843 RIKEN full-length enriched, 12 days embryo spinal ganglion Mus musculus cDNA clone D130073P12 3', mRNA sequence
gi|16426704|gnl|dbEST|10009255|dbj| 843.2|

Nucleotide
efflux RND transporter permease subunit [Actinobacillus porcitonsillarum]
efflux RND transporter permease subunit [Actinobacillus porcitonsillarum]
gi|1388887414|ref|WP_108924158.1|

Protein
nuclear factor erythroid 2-related factor 2 isoform 1 [Mus musculus]
nuclear factor erythroid 2-related factor 2 isoform 1 [Mus musculus]
gi|6754832|ref|NP_035032.1|

Protein

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
SCV004144098	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely benign (Mar 1, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004144098

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Likely benign
(Mar 1, 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	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV004144098.10

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

Description

ABCA6: BP4, BP7

#	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: Oct 20, 2024

ClinVar

Relating variation to medicine