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NM_002972.4(SBF1):c.5672C>T (p.Ser1891Leu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 15, 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:
RCV004044335.1

Allele description [Variation Report for NM_002972.4(SBF1):c.5672C>T (p.Ser1891Leu)]

NM_002972.4(SBF1):c.5672C>T (p.Ser1891Leu)

Gene:
SBF1:SET binding factor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q13.33
Genomic location:
Preferred name:
NM_002972.4(SBF1):c.5672C>T (p.Ser1891Leu)
HGVS:
  • NC_000022.11:g.50447152G>A
  • NG_041810.1:g.32920C>T
  • NM_001365819.1:c.5597C>T
  • NM_002972.2:c.5672C>T
  • NM_002972.4:c.5672C>TMANE SELECT
  • NP_001352748.1:p.Ser1866Leu
  • NP_002963.2:p.Ser1891Leu
  • NC_000022.10:g.50885581G>A
Protein change:
S1866L
Links:
dbSNP: rs375565089
NCBI 1000 Genomes Browser:
rs375565089
Molecular consequence:
  • NM_001365819.1:c.5597C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002972.4:c.5672C>T - 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
SCV004945683Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 15, 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, SCV004945683.1

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

Description

The c.5672C>T (p.S1891L) alteration is located in exon 41 (coding exon 41) of the SBF1 gene. This alteration results from a C to T substitution at nucleotide position 5672, causing the serine (S) at amino acid position 1891 to be replaced by a leucine (L). 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: Sep 29, 2024