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NM_005334.3(HCFC1):c.3615C>T (p.Ser1205=)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 21, 2020
Accession:
VCV000517102.4
Variation ID:
517102
Description:
single nucleotide variant
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NM_005334.3(HCFC1):c.3615C>T (p.Ser1205=)

Allele ID
507963
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xq28
Genomic location
X: 153954784 (GRCh38) GRCh38 UCSC
X: 153220235 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.153220235G>A
NC_000023.11:g.153954784G>A
NG_012513.1:g.21585C>T
NM_005334.3:c.3615C>T MANE Select NP_005325.2:p.Ser1205= synonymous
Protein change
-
Other names
-
Canonical SPDI
NC_000023.11:153954783:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00874 (A)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00278
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00443
Trans-Omics for Precision Medicine (TOPMed) 0.00542
1000 Genomes Project 0.00874
The Genome Aggregation Database (gnomAD) 0.00475
The Genome Aggregation Database (gnomAD), exomes 0.00111
Links
ClinGen: CA10557162
dbSNP: rs3027882
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Jul 3, 2017 RCV000614618.1
Benign 1 criteria provided, single submitter Nov 21, 2020 RCV000907145.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
HCFC1 - - GRCh38
GRCh37
349 597

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jul 03, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000731183.1
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
(Nov 21, 2020)
criteria provided, single submitter
Method: clinical testing
Mental retardation 3, X-linked
Allele origin: germline
Invitae
Accession: SCV001051834.3
Submitted: (Jan 07, 2021)
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 rs3027882...

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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 Nov 20, 2021