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

Recent activity

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MULTISPECIES: universal stress protein [Weissella]
MULTISPECIES: universal stress protein [Weissella]
gi|2209804167|ref|WP_241761918.1|

Protein
C4 protein [Tomato curly stunt virus]
C4 protein [Tomato curly stunt virus]
gi|1999213000|gb|QSS76831.1|

Protein
Weissella tructae strain WS08 chromosome, complete genome
Weissella tructae strain WS08 chromosome, complete genome
gi|749299169|ref|NZ_CP007588.1|

Nucleotide
PREDICTED: Homo sapiens zinc finger protein 518A (ZNF518A), transcript variant X...
PREDICTED: Homo sapiens zinc finger protein 518A (ZNF518A), transcript variant X26, mRNA
gi|2462522117|ref|XM_054367278.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003977391	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (May 30, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003977391

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(May 30, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV003977391.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 10, 2024

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