NM_022455.5(NSD1):c.3311A>G (p.His1104Arg) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 26, 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:: RCV003324011.8

Allele description [Variation Report for NM_022455.5(NSD1):c.3311A>G (p.His1104Arg)]

NM_022455.5(NSD1):c.3311A>G (p.His1104Arg)

Gene:

NSD1:nuclear receptor binding SET domain protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q35.3

Genomic location:

Preferred name:

NM_022455.5(NSD1):c.3311A>G (p.His1104Arg)

HGVS:

NC_000005.10:g.177211710A>G
NG_009821.1:g.83632A>G
NM_001365684.2:c.2438A>G
NM_001409301.1:c.3311A>G
NM_001409302.1:c.3311A>G
NM_001409303.1:c.3311A>G
NM_001409304.1:c.2891A>G
NM_001409305.1:c.2558A>G
NM_001409306.1:c.2438A>G
NM_001409307.1:c.2438A>G
NM_001409308.1:c.2438A>G
NM_001409309.1:c.2438A>G
NM_022455.5:c.3311A>GMANE SELECT
NM_172349.5:c.2438A>G
NP_001352613.1:p.His835Arg
NP_001352613.2:p.His813Arg
NP_001396230.1:p.His1104Arg
NP_001396231.1:p.His1104Arg
NP_001396232.1:p.His1104Arg
NP_001396233.1:p.His964Arg
NP_001396234.1:p.His853Arg
NP_001396235.1:p.His813Arg
NP_001396236.1:p.His813Arg
NP_001396237.1:p.His813Arg
NP_001396238.1:p.His813Arg
NP_071900.2:p.His1104Arg
NP_071900.2:p.His1104Arg
NP_758859.1:p.His835Arg
NP_758859.2:p.His813Arg
LRG_512t1:c.3311A>G
LRG_512:g.83632A>G
LRG_512p1:p.His1104Arg
NC_000005.9:g.176638711A>G
NM_001365684.1:c.2504A>G
NM_022455.4:c.3311A>G
NM_172349.3:c.2504A>G

Protein change:

H1104R

Links:

dbSNP: rs758125212

NCBI 1000 Genomes Browser:

rs758125212

Molecular consequence:

NM_001365684.2:c.2438A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001409301.1:c.3311A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001409302.1:c.3311A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001409303.1:c.3311A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001409304.1:c.2891A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001409305.1:c.2558A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001409306.1:c.2438A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001409307.1:c.2438A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001409308.1:c.2438A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001409309.1:c.2438A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_022455.5:c.3311A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_172349.5:c.2438A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004029688	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Jul 26, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004029688

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Jul 26, 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 Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004029688.1

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

Description

Variant summary: NSD1 c.3311A>G (p.His1104Arg) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 4.4e-05 in 250996 control chromosomes (gnomAD). To our knowledge, no occurrence of c.3311A>G in individuals affected with Sotos Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. One submitter has cited clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

#	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

ClinVar

Relating variation to medicine