NM_022455.5(NSD1):c.3056G>C (p.Arg1019Pro) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 11, 2020
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:: RCV002444151.2

Allele description [Variation Report for NM_022455.5(NSD1):c.3056G>C (p.Arg1019Pro)]

NM_022455.5(NSD1):c.3056G>C (p.Arg1019Pro)

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.3056G>C (p.Arg1019Pro)

HGVS:

NC_000005.10:g.177211455G>C
NG_009821.1:g.83377G>C
NM_001365684.2:c.2183G>C
NM_001409301.1:c.3056G>C
NM_001409302.1:c.3056G>C
NM_001409303.1:c.3056G>C
NM_001409304.1:c.2636G>C
NM_001409305.1:c.2303G>C
NM_001409306.1:c.2183G>C
NM_001409307.1:c.2183G>C
NM_001409308.1:c.2183G>C
NM_001409309.1:c.2183G>C
NM_022455.5:c.3056G>CMANE SELECT
NM_172349.5:c.2183G>C
NP_001352613.1:p.Arg750Pro
NP_001352613.2:p.Arg728Pro
NP_001396230.1:p.Arg1019Pro
NP_001396231.1:p.Arg1019Pro
NP_001396232.1:p.Arg1019Pro
NP_001396233.1:p.Arg879Pro
NP_001396234.1:p.Arg768Pro
NP_001396235.1:p.Arg728Pro
NP_001396236.1:p.Arg728Pro
NP_001396237.1:p.Arg728Pro
NP_001396238.1:p.Arg728Pro
NP_071900.2:p.Arg1019Pro
NP_071900.2:p.Arg1019Pro
NP_758859.1:p.Arg750Pro
NP_758859.2:p.Arg728Pro
LRG_512t1:c.3056G>C
LRG_512:g.83377G>C
LRG_512p1:p.Arg1019Pro
NC_000005.9:g.176638456G>C
NM_001365684.1:c.2249G>C
NM_022455.4:c.3056G>C
NM_172349.3:c.2249G>C

Protein change:

R1019P

Molecular consequence:

NM_001365684.2:c.2183G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001409301.1:c.3056G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001409302.1:c.3056G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001409303.1:c.3056G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001409304.1:c.2636G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001409305.1:c.2303G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001409306.1:c.2183G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001409307.1:c.2183G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001409308.1:c.2183G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001409309.1:c.2183G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_022455.5:c.3056G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_172349.5:c.2183G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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monosaccharide-sensing protein 2-like [Cucurbita maxima]
monosaccharide-sensing protein 2-like [Cucurbita maxima]
gi|1281003881|ref|XP_022985809.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002754151	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 11, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002754151

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 11, 2020)

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, SCV002754151.2

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

Description

The p.R1019P variant (also known as c.3056G>C), located in coding exon 4 of the NSD1 gene, results from a G to C substitution at nucleotide position 3056. The arginine at codon 1019 is replaced by proline, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, 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: May 1, 2024

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