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NM_015120.4(ALMS1):c.1902A>G (p.Gln634=)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Mar 21, 2019)
Last evaluated:
Mar 5, 2019
Accession:
VCV000390645.2
Variation ID:
390645
Description:
single nucleotide variant
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NM_015120.4(ALMS1):c.1902A>G (p.Gln634=)

Allele ID
367805
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p13.1
Genomic location
2: 73448426 (GRCh38) GRCh38 UCSC
2: 73675553 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.12:g.73448426A>G
NC_000002.11:g.73675553A>G
NM_015120.4:c.1896A>G
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.01478 (G)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.01404
The Genome Aggregation Database (gnomAD), exomes 0.00302
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.01226
Exome Aggregation Consortium (ExAC) 0.00384
1000 Genomes Project 0.01478
The Genome Aggregation Database (gnomAD) 0.01153
Links
ClinGen: CA1713240
dbSNP: rs116033693
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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 Oct 28, 2016 RCV000439779.2
Benign 2 criteria provided, multiple submitters, no conflicts Mar 5, 2019 RCV000710529.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ALMS1 - - GRCh38
GRCh37
1494 1505

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Oct 28, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000533531.4
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
(May 24, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000840769.1
Submitted: (Aug 31, 2018)
Evidence details
Benign
(Mar 21, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000711819.1
Submitted: (Mar 21, 2019)
Evidence details
Comment:
p.Gln632Gln in exon 8 of ALMS1: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, ... (more)
Benign
(Mar 05, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV000554301.4
Submitted: (Mar 14, 2019)
Evidence details

Citations for this variant

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

Record last updated Jan 18, 2020