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NM_003523.3(H2BC6):c.167C>T (p.Ser56Phe) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 29, 2024
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:
RCV004627308.1

Allele description [Variation Report for NM_003523.3(H2BC6):c.167C>T (p.Ser56Phe)]

NM_003523.3(H2BC6):c.167C>T (p.Ser56Phe)

Gene:
H2BC6:H2B clustered histone 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p22.2
Genomic location:
Preferred name:
NM_003523.3(H2BC6):c.167C>T (p.Ser56Phe)
HGVS:
  • NC_000006.12:g.26183962C>T
  • NG_175467.1:g.39C>T
  • NM_003523.3:c.167C>TMANE SELECT
  • NP_003514.2:p.Ser56Phe
  • NC_000006.11:g.26184190C>T
  • NM_003523.2:c.167C>T
Protein change:
S56F
Molecular consequence:
  • NM_003523.3:c.167C>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
SCV005128965Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 29, 2024) 		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, SCV005128965.1

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

Description

The c.167C>T (p.S56F) alteration is located in exon 1 (coding exon 1) of the HIST1H2BE gene. This alteration results from a C to T substitution at nucleotide position 167, causing the serine (S) at amino acid position 56 to be replaced by a phenylalanine (F). 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: Aug 11, 2024