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NM_001369.2(DNAH5):c.9677C>T (p.Ala3226Val)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 23, 2020
Accession:
VCV000238990.5
Variation ID:
238990
Description:
single nucleotide variant
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NM_001369.2(DNAH5):c.9677C>T (p.Ala3226Val)

Allele ID
239731
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5p15.2
Genomic location
5: 13769544 (GRCh38) GRCh38 UCSC
5: 13769653 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.13769544G>A
NC_000005.9:g.13769653G>A
NM_001369.2:c.9677C>T NP_001360.1:p.Ala3226Val missense
... more HGVS
Protein change
A3226V
Other names
-
Canonical SPDI
NC_000005.10:13769543:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00100 (A)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00014
1000 Genomes Project 0.00100
Links
ClinGen: CA3202473
dbSNP: rs192262838
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, single submitter Nov 23, 2020 RCV000232582.7
Uncertain significance 1 criteria provided, single submitter Jun 2, 2017 RCV000667515.1
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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
Uncertain significance
(Jun 02, 2017)
criteria provided, single submitter
Method: clinical testing
Ciliary dyskinesia, primary, 3
Allele origin: unknown
Counsyl
Accession: SCV000791983.1
Submitted: (Jul 10, 2018)
Evidence details
Likely benign
(Nov 23, 2020)
criteria provided, single submitter
Method: clinical testing
Primary ciliary dyskinesia
Allele origin: germline
Invitae
Accession: SCV000287101.6
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Uncertain significance
(Jan 10, 2020)
no assertion criteria provided
Method: clinical testing
Primary ciliary dyskinesia
Allele origin: germline
Natera, Inc.
Accession: SCV001452459.1
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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Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532

Text-mined citations for rs192262838...

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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 14, 2021