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NM_005334.3(HCFC1):c.3228G>A (p.Ser1076=)

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Interpretation:
Benign​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 27, 2018
Accession:
VCV000766155.2
Variation ID:
766155
Description:
single nucleotide variant
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NM_005334.3(HCFC1):c.3228G>A (p.Ser1076=)

Allele ID
773882
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xq28
Genomic location
X: 153955171 (GRCh38) GRCh38 UCSC
X: 153220622 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.11:g.153955171C>T
NC_000023.10:g.153220622C>T
NM_005334.3:c.3228G>A MANE Select NP_005325.2:p.Ser1076= synonymous
NG_012513.1:g.21198G>A
Protein change
-
Other names
-
Canonical SPDI
NC_000023.11:153955170:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00053 (T)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00010
1000 Genomes Project 0.00053
Exome Aggregation Consortium (ExAC) 0.00028
Links
dbSNP: rs375223452
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 Aug 27, 2018 RCV000944655.1
Benign 1 criteria provided, single submitter Aug 20, 2018 RCV001513990.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
HCFC1 - - GRCh38
GRCh37
331 579

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Aug 27, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001090630.1
Submitted: (Mar 14, 2019)
Evidence details
Benign
(Aug 20, 2018)
criteria provided, single submitter
Method: clinical testing
Mental retardation 3, X-linked
Allele origin: germline
Invitae
Accession: SCV001721712.1
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 rs375223452...

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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