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NM_013255.5(MKLN1):c.1096A>G (p.Ile366Val) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 9, 2022
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:
RCV004087139.1

Allele description [Variation Report for NM_013255.5(MKLN1):c.1096A>G (p.Ile366Val)]

NM_013255.5(MKLN1):c.1096A>G (p.Ile366Val)

Gene:
MKLN1:muskelin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q32.3
Genomic location:
Preferred name:
NM_013255.5(MKLN1):c.1096A>G (p.Ile366Val)
HGVS:
  • NC_000007.14:g.131437920A>G
  • NM_001145354.2:c.1027A>G
  • NM_001321316.2:c.475A>G
  • NM_013255.5:c.1096A>GMANE SELECT
  • NP_001138826.1:p.Ile343Val
  • NP_001308245.1:p.Ile159Val
  • NP_037387.2:p.Ile366Val
  • NC_000007.13:g.131122679A>G
  • NM_013255.4:c.1096A>G
Protein change:
I159V
Molecular consequence:
  • NM_001145354.2:c.1027A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321316.2:c.475A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_013255.5:c.1096A>G - 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
SCV003547341Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 9, 2022) 		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, SCV003547341.2

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

Description

The c.1096A>G (p.I366V) alteration is located in exon 10 (coding exon 10) of the MKLN1 gene. This alteration results from a A to G substitution at nucleotide position 1096, causing the isoleucine (I) at amino acid position 366 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 3, 2024