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NM_024677.6(NSUN7):c.2136G>T (p.Arg712Ser) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 30, 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:
RCV004326385.1

Allele description [Variation Report for NM_024677.6(NSUN7):c.2136G>T (p.Arg712Ser)]

NM_024677.6(NSUN7):c.2136G>T (p.Arg712Ser)

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.2136G>T (p.Arg712Ser)
HGVS:
  • NC_000004.12:g.40808918G>T
  • NG_013337.1:g.410701C>A
  • NM_001330648.3:c.*584G>T
  • NM_024677.6:c.2136G>TMANE SELECT
  • NP_078953.4:p.Arg712Ser
  • NC_000004.11:g.40810935G>T
  • NM_024677.4:c.2136G>T
Protein change:
R712S
Molecular consequence:
  • NM_001330648.3:c.*584G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_024677.6:c.2136G>T - 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
SCV003977391Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 30, 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, SCV003977391.2

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

Description

The c.2136G>T (p.R712S) alteration is located in exon 12 (coding exon 11) of the NSUN7 gene. This alteration results from a G to T substitution at nucleotide position 2136, causing the arginine (R) at amino acid position 712 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