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NM_001142684.2(ZMYM5):c.443A>G (p.Asn148Ser) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 5, 2023
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:
RCV004329161.1

Allele description [Variation Report for NM_001142684.2(ZMYM5):c.443A>G (p.Asn148Ser)]

NM_001142684.2(ZMYM5):c.443A>G (p.Asn148Ser)

Gene:
ZMYM5:zinc finger MYM-type containing 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q12.11
Genomic location:
Preferred name:
NM_001142684.2(ZMYM5):c.443A>G (p.Asn148Ser)
HGVS:
  • NC_000013.11:g.19851738T>C
  • NM_001039649.3:c.443A>G
  • NM_001039650.3:c.443A>G
  • NM_001142684.2:c.443A>GMANE SELECT
  • NP_001034738.1:p.Asn148Ser
  • NP_001034739.1:p.Asn148Ser
  • NP_001136156.1:p.Asn148Ser
  • NC_000013.10:g.20425878T>C
  • NM_001142684.1:c.443A>G
Protein change:
N148S
Molecular consequence:
  • NM_001039649.3:c.443A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001039650.3:c.443A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142684.2:c.443A>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
SCV003995259Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 5, 2023) 		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, SCV003995259.2

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

Description

The c.443A>G (p.N148S) alteration is located in exon 3 (coding exon 1) of the ZMYM5 gene. This alteration results from a A to G substitution at nucleotide position 443, causing the asparagine (N) at amino acid position 148 to be replaced by a serine (S). 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