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NM_022455.5(NSD1):c.3449G>C (p.Gly1150Ala) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Nov 7, 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:
RCV004493679.1

Allele description [Variation Report for NM_022455.5(NSD1):c.3449G>C (p.Gly1150Ala)]

NM_022455.5(NSD1):c.3449G>C (p.Gly1150Ala)

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.3449G>C (p.Gly1150Ala)
HGVS:
  • NC_000005.10:g.177211848G>C
  • NG_009821.1:g.83770G>C
  • NM_001365684.2:c.2576G>C
  • NM_001409301.1:c.3449G>C
  • NM_001409302.1:c.3449G>C
  • NM_001409303.1:c.3449G>C
  • NM_001409304.1:c.3029G>C
  • NM_001409305.1:c.2696G>C
  • NM_001409306.1:c.2576G>C
  • NM_001409307.1:c.2576G>C
  • NM_001409308.1:c.2576G>C
  • NM_001409309.1:c.2576G>C
  • NM_022455.5:c.3449G>CMANE SELECT
  • NM_172349.5:c.2576G>C
  • NP_001352613.2:p.Gly859Ala
  • NP_001396230.1:p.Gly1150Ala
  • NP_001396231.1:p.Gly1150Ala
  • NP_001396232.1:p.Gly1150Ala
  • NP_001396233.1:p.Gly1010Ala
  • NP_001396234.1:p.Gly899Ala
  • NP_001396235.1:p.Gly859Ala
  • NP_001396236.1:p.Gly859Ala
  • NP_001396237.1:p.Gly859Ala
  • NP_001396238.1:p.Gly859Ala
  • NP_071900.2:p.Gly1150Ala
  • NP_071900.2:p.Gly1150Ala
  • NP_758859.2:p.Gly859Ala
  • LRG_512t1:c.3449G>C
  • LRG_512:g.83770G>C
  • LRG_512p1:p.Gly1150Ala
  • NC_000005.9:g.176638849G>C
  • NM_022455.4:c.3449G>C
Protein change:
G1010A
Molecular consequence:
  • NM_001365684.2:c.2576G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001409301.1:c.3449G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001409302.1:c.3449G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001409303.1:c.3449G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001409304.1:c.3029G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001409305.1:c.2696G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001409306.1:c.2576G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001409307.1:c.2576G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001409308.1:c.2576G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001409309.1:c.2576G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022455.5:c.3449G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172349.5:c.2576G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004993238Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Nov 7, 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, SCV004993238.1

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024