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NM_024677.6(NSUN7):c.425G>A (p.Arg142His) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 9, 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:
RCV004258142.1

Allele description [Variation Report for NM_024677.6(NSUN7):c.425G>A (p.Arg142His)]

NM_024677.6(NSUN7):c.425G>A (p.Arg142His)

Gene:
NSUN7:NOP2/Sun RNA methyltransferase family member 7 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4p14
Genomic location:
Preferred name:
NM_024677.6(NSUN7):c.425G>A (p.Arg142His)
HGVS:
  • NC_000004.12:g.40761238G>A
  • NM_001330648.3:c.425G>A
  • NM_024677.6:c.425G>AMANE SELECT
  • NP_001317577.1:p.Arg142His
  • NP_078953.4:p.Arg142His
  • NC_000004.11:g.40763255G>A
  • NM_024677.4:c.425G>A
Protein change:
R142H
Molecular consequence:
  • NM_001330648.3:c.425G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024677.6:c.425G>A - 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
SCV003873684Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 9, 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, SCV003873684.2

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

Description

The c.425G>A (p.R142H) alteration is located in exon 4 (coding exon 3) of the NSUN7 gene. This alteration results from a G to A substitution at nucleotide position 425, causing the arginine (R) at amino acid position 142 to be replaced by a histidine (H). 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