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NM_025112.5(ZXDC):c.362C>T (p.Pro121Leu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 5, 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:
RCV004490529.1

Allele description [Variation Report for NM_025112.5(ZXDC):c.362C>T (p.Pro121Leu)]

NM_025112.5(ZXDC):c.362C>T (p.Pro121Leu)

Genes:
LOC129937463:ATAC-STARR-seq lymphoblastoid silent region 14677 [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.362C>T (p.Pro121Leu)
HGVS:
  • NC_000003.12:g.126475504G>A
  • NG_170473.1:g.284G>A
  • NM_001040653.4:c.362C>T
  • NM_025112.5:c.362C>TMANE SELECT
  • NP_001035743.1:p.Pro121Leu
  • NP_079388.3:p.Pro121Leu
  • NC_000003.11:g.126194347G>A
  • NM_025112.4:c.362C>T
  • NR_104249.2:n.388C>T
Protein change:
P121L
Molecular consequence:
  • NM_001040653.4:c.362C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_025112.5:c.362C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_104249.2:n.388C>T - 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
SCV004990340Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 5, 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, SCV004990340.1

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

Description

The c.362C>T (p.P121L) alteration is located in exon 1 (coding exon 1) of the ZXDC gene. This alteration results from a C to T substitution at nucleotide position 362, causing the proline (P) at amino acid position 121 to be replaced by a leucine (L). 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: May 7, 2024