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NM_001146210.4(SPDYE6):c.956C>T (p.Ser319Phe) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 22, 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:
RCV004330140.1

Allele description [Variation Report for NM_001146210.4(SPDYE6):c.956C>T (p.Ser319Phe)]

NM_001146210.4(SPDYE6):c.956C>T (p.Ser319Phe)

Gene:
SPDYE6:speedy/RINGO cell cycle regulator family member E6 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q22.1
Genomic location:
Preferred name:
NM_001146210.4(SPDYE6):c.956C>T (p.Ser319Phe)
HGVS:
  • NC_000007.14:g.102348477G>A
  • NM_001146210.4:c.956C>TMANE SELECT
  • NP_001139682.2:p.Ser319Phe
  • NC_000007.13:g.101988917G>A
  • NM_001146210.1:c.956C>T
Protein change:
S319F
Molecular consequence:
  • NM_001146210.4:c.956C>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
SCV003999715Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 22, 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, SCV003999715.2

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

Description

The c.956C>T (p.S319F) alteration is located in exon 6 (coding exon 6) of the SPDYE6 gene. This alteration results from a C to T substitution at nucleotide position 956, causing the serine (S) at amino acid position 319 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: Nov 3, 2024