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NM_000443.4(ABCB4):c.918G>A (p.Leu306=) AND ABCB4-related disorder

Germline classification:
Likely benign (1 submission)
Last evaluated:
Sep 1, 2022
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:
RCV004544077.2

Allele description [Variation Report for NM_000443.4(ABCB4):c.918G>A (p.Leu306=)]

NM_000443.4(ABCB4):c.918G>A (p.Leu306=)

Gene:
ABCB4:ATP binding cassette subfamily B member 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q21.12
Genomic location:
Preferred name:
NM_000443.4(ABCB4):c.918G>A (p.Leu306=)
HGVS:
  • NC_000007.14:g.87447121C>T
  • NG_007118.2:g.38312G>A
  • NG_007118.3:g.33906G>A
  • NM_000443.4:c.918G>AMANE SELECT
  • NM_018849.3:c.918G>A
  • NM_018850.3:c.918G>A
  • NP_000434.1:p.Leu306=
  • NP_061337.1:p.Leu306=
  • NP_061338.1:p.Leu306=
  • NC_000007.13:g.87076437C>T
  • NM_000443.3:c.918G>A
Molecular consequence:
  • NM_000443.4:c.918G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_018849.3:c.918G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_018850.3:c.918G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
ABCB4-related disorder
Synonyms:
ABCB4-related disorders; ABCB4-related condition
Identifiers:

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV004774246PreventionGenetics, part of Exact Sciences
    no assertion criteria provided
    		Likely benign
    (Sep 1, 2022)     		germlineclinical testing

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

    Details of each submission

    From PreventionGenetics, part of Exact Sciences, SCV004774246.2

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedclinical testingnot 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).

    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

    Last Updated: Oct 13, 2024