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NM_001369.2(DNAH5):c.5162C>G (p.Ser1721Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 28, 2019)
Last evaluated:
Dec 17, 2018
Accession:
VCV000653170.1
Variation ID:
653170
Description:
single nucleotide variant
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NM_001369.2(DNAH5):c.5162C>G (p.Ser1721Ter)

Allele ID
633246
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5p15.2
Genomic location
5: 13844946 (GRCh38) GRCh38 UCSC
5: 13845055 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.13844946G>C
NC_000005.9:g.13845055G>C
NM_001369.2:c.5162C>G NP_001360.1:p.Ser1721Ter nonsense
... more HGVS
Protein change
S1721*
Other names
-
Canonical SPDI
NC_000005.10:13844945:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1580543538
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Dec 17, 2018 RCV000808890.1
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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
Pathogenic
(Dec 17, 2018)
criteria provided, single submitter
Method: clinical testing
Primary ciliary dyskinesia
Allele origin: germline
Invitae
Accession: SCV000949019.1
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change creates a premature translational stop signal (p.Ser1721*) in the DNAH5 gene. It is expected to result in an absent or disrupted protein … (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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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 rs1580543538...

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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