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NM_005334.3(HCFC1):c.3779G>T (p.Ser1260Ile)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Mar 31, 2020
Accession:
VCV001063377.1
Variation ID:
1063377
Description:
single nucleotide variant
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NM_005334.3(HCFC1):c.3779G>T (p.Ser1260Ile)

Allele ID
1052328
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xq28
Genomic location
X: 153954620 (GRCh38) GRCh38 UCSC
X: 153220071 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.153220071C>A
NC_000023.11:g.153954620C>A
NG_012513.1:g.21749G>T
NM_005334.3:c.3779G>T MANE Select NP_005325.2:p.Ser1260Ile missense
Protein change
S1260I
Other names
-
Canonical SPDI
NC_000023.11:153954619:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Mar 31, 2020 RCV001373207.1
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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
356 604

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Uncertain significance
(Mar 31, 2020)
criteria provided, single submitter
Method: clinical testing
Mental retardation 3, X-linked
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV001569912.1
Submitted: (Jan 07, 2021)
Comment:
This sequence change replaces serine with isoleucine at codon 1260 of the HCFC1 protein (p.Ser1260Ile). The serine residue is weakly conserved and there is a … (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.

Record last updated Dec 29, 2021