NM_003742.4(ABCB11):c.2447A>C (p.Gln816Pro) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 24, 2023
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:: RCV003242265.2

Allele description [Variation Report for NM_003742.4(ABCB11):c.2447A>C (p.Gln816Pro)]

NM_003742.4(ABCB11):c.2447A>C (p.Gln816Pro)

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.2447A>C (p.Gln816Pro)

HGVS:

NC_000002.12:g.168944858T>G
NG_007374.2:g.91539A>C
NM_003742.4:c.2447A>CMANE SELECT
NP_003733.2:p.Gln816Pro
LRG_1199t1:c.2447A>C
LRG_1199:g.91539A>C
LRG_1199p1:p.Gln816Pro
NC_000002.11:g.169801368T>G
NM_003742.2:c.2447A>C

Protein change:

Q816P

Molecular consequence:

NM_003742.4:c.2447A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

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YchJ family protein [Mycolicibacterium mucogenicum]
YchJ family protein [Mycolicibacterium mucogenicum]
gi|992019995|ref|WP_060999096.1|

Protein
NADH-plastoquinone oxidoreductase subunit 4 (chloroplast) [Oreocharis chienii]
NADH-plastoquinone oxidoreductase subunit 4 (chloroplast) [Oreocharis chienii]
gi|2126532844|gb|UDU84691.1|

Protein
Ycf2 protein (chloroplast) [Oreocharis chienii]
Ycf2 protein (chloroplast) [Oreocharis chienii]
gi|2126532850|gb|UDU84697.1|

Protein
Profile neighbors for GEO Profiles (Select 7088048) (62)
GEO Profiles

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003964663	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Mar 24, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003964663

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Mar 24, 2023)

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, SCV003964663.2

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

Description

The c.2447A>C (p.Q816P) alteration is located in exon 20 (coding exon 19) of the ABCB11 gene. This alteration results from a A to C substitution at nucleotide position 2447, causing the glutamine (Q) at amino acid position 816 to be replaced by a proline (P). 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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