Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_054027.6(ANKH):c.-4G>A

Help
Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Sep 14, 2021)
Last evaluated:
Nov 13, 2020
Accession:
VCV000351926.5
Variation ID:
351926
Description:
single nucleotide variant
Help

NM_054027.6(ANKH):c.-4G>A

Allele ID
295939
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5p15.2
Genomic location
5: 14871451 (GRCh38) GRCh38 UCSC
5: 14871560 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_1362:g.5335G>A
LRG_1362t1:c.-4G>A
NC_000005.10:g.14871451C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000005.10:14871450:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.02157 (T)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.04983
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.05414
1000 Genomes Project 0.02157
The Genome Aggregation Database (gnomAD) 0.06198
Links
ClinGen: CA3209271
dbSNP: rs78431233
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, multiple submitters, no conflicts Nov 13, 2020 RCV001510110.3
Benign 1 criteria provided, single submitter Mar 6, 2018 RCV000275449.2
Benign 1 criteria provided, single submitter Mar 6, 2018 RCV000309955.2
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ANKH - - GRCh38
GRCh37
115 405

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Dec 12, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001863758.1
Submitted: (Sep 14, 2021)
Evidence details
Comment:
This variant is associated with the following publications: (PMID: 15818664, 21811784, 23315997)
Benign
(Mar 06, 2018)
criteria provided, single submitter
Method: clinical testing
Craniometaphyseal dysplasia, autosomal dominant
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000454608.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Mar 06, 2018)
criteria provided, single submitter
Method: clinical testing
Chondrocalcinosis 2
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000454607.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Nov 13, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001717052.1
Submitted: (Jan 07, 2021)
Evidence details

Functional evidence

Help
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

Help
There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs78431233...

Help
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 Sep 23, 2021