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NM_001007467.3(SFI1):c.1372G>C (p.Glu458Gln) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 14, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV004455728.1

Allele description [Variation Report for NM_001007467.3(SFI1):c.1372G>C (p.Glu458Gln)]

NM_001007467.3(SFI1):c.1372G>C (p.Glu458Gln)

Gene:
SFI1:SFI1 centrin binding protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q12.2
Genomic location:
Preferred name:
NM_001007467.3(SFI1):c.1372G>C (p.Glu458Gln)
HGVS:
  • NC_000022.11:g.31585093G>C
  • NM_001007467.3:c.1372G>CMANE SELECT
  • NM_001258325.1:c.1207G>C
  • NM_001258326.2:c.1126G>C
  • NM_001258327.2:c.1126G>C
  • NM_014775.4:c.1279G>C
  • NP_001007468.1:p.Glu458Gln
  • NP_001245254.1:p.Glu403Gln
  • NP_001245255.1:p.Glu376Gln
  • NP_001245256.1:p.Glu376Gln
  • NP_055590.2:p.Glu427Gln
  • NC_000022.10:g.31981079G>C
  • NM_001007467.1:c.1372G>C
Protein change:
E376Q
Molecular consequence:
  • NM_001007467.3:c.1372G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258325.1:c.1207G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258326.2:c.1126G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258327.2:c.1126G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014775.4:c.1279G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004946292Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 14, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV004946292.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.1372G>C (p.E458Q) alteration is located in exon 14 (coding exon 13) of the SFI1 gene. This alteration results from a G to C substitution at nucleotide position 1372, causing the glutamic acid (E) at amino acid position 458 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024