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NM_000443.4(ABCB4):c.1314G>A (p.Thr438=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Feb 20, 2020)
Last evaluated:
Dec 31, 2019
Accession:
VCV000281138.4
Variation ID:
281138
Description:
single nucleotide variant
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NM_000443.4(ABCB4):c.1314G>A (p.Thr438=)

Allele ID
265375
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q21.12
Genomic location
7: 87443361 (GRCh38) GRCh38 UCSC
7: 87072677 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.14:g.87443361C>T
NC_000007.13:g.87072677C>T
NM_000443.4:c.1314G>A MANE Select NP_000434.1:p.Thr438= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000007.14:87443360:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00260 (T)

Allele frequency
1000 Genomes Project 0.00260
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00377
The Genome Aggregation Database (gnomAD) 0.00558
Links
ClinGen: CA4327316
dbSNP: rs45624933
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Feb 1, 2018 RCV000362178.4
Benign 1 criteria provided, single submitter Dec 31, 2019 RCV000971217.2
Benign 1 criteria provided, single submitter May 16, 2017 RCV001161565.1
Benign 1 criteria provided, single submitter May 16, 2017 RCV001161566.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ABCB4 - - GRCh38
GRCh37
360 377

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Feb 01, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000518647.4
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Benign
(Oct 19, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000331493.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001118845.2
Submitted: (Jan 29, 2020)
Evidence details
Benign
(May 16, 2017)
criteria provided, single submitter
Method: clinical testing
Progressive familial intrahepatic cholestasis 3
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001323453.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Benign
(May 16, 2017)
criteria provided, single submitter
Method: clinical testing
Cholestasis, intrahepatic, of pregnancy 3
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001323454.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=ABCB4 - - - -

Text-mined citations for rs45624933...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Apr 08, 2021