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NM_016068.3(FIS1):c.410C>T (p.Ala137Val) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 2, 2021
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:
RCV004099371.1

Allele description [Variation Report for NM_016068.3(FIS1):c.410C>T (p.Ala137Val)]

NM_016068.3(FIS1):c.410C>T (p.Ala137Val)

Gene:
FIS1:fission, mitochondrial 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q22.1
Genomic location:
Preferred name:
NM_016068.3(FIS1):c.410C>T (p.Ala137Val)
HGVS:
  • NC_000007.14:g.101239855G>A
  • NG_111978.1:g.36G>A
  • NM_016068.3:c.410C>TMANE SELECT
  • NP_057152.2:p.Ala137Val
  • NC_000007.13:g.100883136G>A
  • NM_016068.2:c.410C>T
Protein change:
A137V
Molecular consequence:
  • NM_016068.3:c.410C>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
SCV003569263Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 2, 2021) 		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, SCV003569263.2

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

Description

The c.410C>T (p.A137V) alteration is located in exon 5 (coding exon 5) of the FIS1 gene. This alteration results from a C to T substitution at nucleotide position 410, causing the alanine (A) at amino acid position 137 to be replaced by a valine (V). 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 10, 2024