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NM_001369.2(DNAH5):c.4836G>A (p.Val1612=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 8, 2020
Accession:
VCV000238975.6
Variation ID:
238975
Description:
single nucleotide variant
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NM_001369.2(DNAH5):c.4836G>A (p.Val1612=)

Allele ID
239744
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5p15.2
Genomic location
5: 13859566 (GRCh38) GRCh38 UCSC
5: 13859675 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.13859566C>T
NC_000005.9:g.13859675C>T
NM_001369.2:c.4836G>A NP_001360.1:p.Val1612= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000005.10:13859565:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00699 (T)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.01007
The Genome Aggregation Database (gnomAD), exomes 0.00201
1000 Genomes Project 0.00699
Trans-Omics for Precision Medicine (TOPMed) 0.00890
Exome Aggregation Consortium (ExAC) 0.00256
The Genome Aggregation Database (gnomAD) 0.00895
Links
ClinGen: CA3203862
dbSNP: rs34671383
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 2 criteria provided, multiple submitters, no conflicts Jan 12, 2018 RCV000666257.2
Benign 2 criteria provided, single submitter Dec 8, 2020 RCV000229367.8
Benign 1 criteria provided, single submitter - RCV000254315.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
DNAH5 - - GRCh38
GRCh37
2404 2538

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000307774.1
Submitted: (Apr 28, 2016)
Evidence details
Likely benign
(Mar 27, 2017)
criteria provided, single submitter
Method: clinical testing
Ciliary dyskinesia, primary, 3
Allele origin: unknown
Counsyl
Accession: SCV000790518.1
Submitted: (Jul 10, 2018)
Evidence details
Likely benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Ciliary dyskinesia, primary, 3
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001319503.1
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
(Dec 08, 2020)
criteria provided, single submitter
Method: clinical testing
Primary ciliary dyskinesia
Allele origin: germline
Invitae
Accession: SCV000287080.7
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Sep 16, 2020)
no assertion criteria provided
Method: clinical testing
Primary ciliary dyskinesia
Allele origin: germline
Natera, Inc.
Accession: SCV001458400.1
Submitted: (Dec 28, 2020)
Evidence details

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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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 rs34671383...

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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 Jun 23, 2021