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NM_020782.2(KLHL42):c.1038T>G (p.Ile346Met) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 15, 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:
RCV004644181.1

Allele description [Variation Report for NM_020782.2(KLHL42):c.1038T>G (p.Ile346Met)]

NM_020782.2(KLHL42):c.1038T>G (p.Ile346Met)

Gene:
KLHL42:kelch like family member 42 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12p11.22
Genomic location:
Preferred name:
NM_020782.2(KLHL42):c.1038T>G (p.Ile346Met)
HGVS:
  • NC_000012.12:g.27791873T>G
  • NM_020782.2:c.1038T>GMANE SELECT
  • NP_065833.1:p.Ile346Met
  • NC_000012.11:g.27944806T>G
  • NM_020782.1:c.1038T>G
Protein change:
I346M
Molecular consequence:
  • NM_020782.2:c.1038T>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
SCV005131264Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 15, 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, SCV005131264.1

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

Description

The c.1038T>G (p.I346M) alteration is located in exon 2 (coding exon 2) of the KLHL42 gene. This alteration results from a T to G substitution at nucleotide position 1038, causing the isoleucine (I) at amino acid position 346 to be replaced by a methionine (M). 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