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NM_025112.5(ZXDC):c.124C>A (p.Leu42Met) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 6, 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:
RCV004606957.1

Allele description [Variation Report for NM_025112.5(ZXDC):c.124C>A (p.Leu42Met)]

NM_025112.5(ZXDC):c.124C>A (p.Leu42Met)

Genes:
LOC129937464:ATAC-STARR-seq lymphoblastoid silent region 14678 [Gene]
ZXDC:ZXD family zinc finger C [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q21.3
Genomic location:
Preferred name:
NM_025112.5(ZXDC):c.124C>A (p.Leu42Met)
HGVS:
  • NC_000003.12:g.126475742G>T
  • NG_170474.1:g.192G>T
  • NM_001040653.4:c.124C>A
  • NM_025112.5:c.124C>AMANE SELECT
  • NP_001035743.1:p.Leu42Met
  • NP_079388.3:p.Leu42Met
  • NC_000003.11:g.126194585G>T
  • NM_025112.4:c.124C>A
  • NR_104249.2:n.150C>A
Protein change:
L42M
Molecular consequence:
  • NM_001040653.4:c.124C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_025112.5:c.124C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_104249.2:n.150C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV005101464Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 6, 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, SCV005101464.1

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

Description

The c.124C>A (p.L42M) alteration is located in exon 1 (coding exon 1) of the ZXDC gene. This alteration results from a C to A substitution at nucleotide position 124, causing the leucine (L) at amino acid position 42 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