NM_145080.4(NSMCE1):c.784C>G (p.Arg262Gly) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 19, 2022
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:: RCV004173686.1

Allele description [Variation Report for NM_145080.4(NSMCE1):c.784C>G (p.Arg262Gly)]

NM_145080.4(NSMCE1):c.784C>G (p.Arg262Gly)

Gene:

NSMCE1:NSE1 homolog, SMC5-SMC6 complex component [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p12.1

Genomic location:

Preferred name:

NM_145080.4(NSMCE1):c.784C>G (p.Arg262Gly)

HGVS:

NC_000016.10:g.27225174G>C
NM_145080.4:c.784C>GMANE SELECT
NP_659547.2:p.Arg262Gly
NC_000016.9:g.27236495G>C
NM_145080.3:c.784C>G

Protein change:

R262G

Molecular consequence:

NM_145080.4:c.784C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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PREDICTED: Rattus norvegicus KLF transcription factor 12 (Klf12), transcript var...
PREDICTED: Rattus norvegicus KLF transcription factor 12 (Klf12), transcript variant X7, mRNA
gi|2678899354|ref|XM_039093384.2|

Nucleotide
transcription factor SOX-6 isoform X2 [Rattus norvegicus]
transcription factor SOX-6 isoform X2 [Rattus norvegicus]
gi|564330572|ref|XP_006230149.1|

Protein
Krueppel-like factor 12 isoform X7 [Rattus norvegicus]
Krueppel-like factor 12 isoform X7 [Rattus norvegicus]
gi|1046861395|ref|XP_017455207.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003670393	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 19, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003670393

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 19, 2022)

germline

clinical testing

Citation Link

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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, SCV003670393.2

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

Description

The c.784C>G (p.R262G) alteration is located in exon 8 (coding exon 7) of the NSMCE1 gene. This alteration results from a C to G substitution at nucleotide position 784, causing the arginine (R) at amino acid position 262 to be replaced by a glycine (G). 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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