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NM_001146262.4(SYT14):c.8T>C (p.Ile3Thr) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jul 12, 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:
RCV004335196.1

Allele description [Variation Report for NM_001146262.4(SYT14):c.8T>C (p.Ile3Thr)]

NM_001146262.4(SYT14):c.8T>C (p.Ile3Thr)

Gene:
SYT14:synaptotagmin 14 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q32.2
Genomic location:
Preferred name:
NM_001146262.4(SYT14):c.8T>C (p.Ile3Thr)
HGVS:
  • NC_000001.11:g.209938272T>C
  • NG_031962.1:g.5099T>C
  • NG_031962.2:g.5057T>C
  • NM_001146261.4:c.22T>C
  • NM_001146262.2:c.8T>C
  • NM_001146262.4:c.8T>CMANE SELECT
  • NM_001146264.4:c.22T>C
  • NM_001256006.3:c.-312T>C
  • NM_001397544.1:c.-1042T>C
  • NM_001397545.1:c.-1247T>C
  • NM_153262.5:c.8T>C
  • NP_001139733.1:p.Leu8=
  • NP_001139734.1:p.Ile3Thr
  • NP_001139736.1:p.Leu8=
  • NP_694994.2:p.Ile3Thr
  • NC_000001.10:g.210111617T>C
  • NM_001146261.1:c.22T>C
  • NR_027458.1:n.80T>C
  • NR_027459.3:n.56T>C
Protein change:
I3T
Molecular consequence:
  • NM_001256006.3:c.-312T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001397544.1:c.-1042T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001397545.1:c.-1247T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001146262.4:c.8T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153262.5:c.8T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027459.3:n.56T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001146261.4:c.22T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001146264.4:c.22T>C - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV004054447Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jul 12, 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, SCV004054447.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Nov 3, 2024