NM_022455.5(NSD1):c.6673C>G (p.Pro2225Ala) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 12, 2019
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:: RCV002363148.9

Allele description [Variation Report for NM_022455.5(NSD1):c.6673C>G (p.Pro2225Ala)]

NM_022455.5(NSD1):c.6673C>G (p.Pro2225Ala)

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.6673C>G (p.Pro2225Ala)

HGVS:

NC_000005.10:g.177294041C>G
NG_009821.1:g.165963C>G
NM_001365684.2:c.5800C>G
NM_001409301.1:c.6673C>G
NM_001409302.1:c.6673C>G
NM_001409303.1:c.6673C>G
NM_001409304.1:c.6253C>G
NM_001409305.1:c.5920C>G
NM_001409306.1:c.5911C>G
NM_001409307.1:c.5911C>G
NM_001409308.1:c.5800C>G
NM_001409309.1:c.5551C>G
NM_022455.5:c.6673C>GMANE SELECT
NM_172349.5:c.5800C>G
NP_001352613.1:p.Pro1956Ala
NP_001352613.2:p.Pro1934Ala
NP_001396230.1:p.Pro2225Ala
NP_001396231.1:p.Pro2225Ala
NP_001396232.1:p.Pro2225Ala
NP_001396233.1:p.Pro2085Ala
NP_001396234.1:p.Pro1974Ala
NP_001396235.1:p.Pro1971Ala
NP_001396236.1:p.Pro1971Ala
NP_001396237.1:p.Pro1934Ala
NP_001396238.1:p.Pro1851Ala
NP_071900.2:p.Pro2225Ala
NP_071900.2:p.Pro2225Ala
NP_758859.1:p.Pro1956Ala
NP_758859.2:p.Pro1934Ala
LRG_512t1:c.6673C>G
LRG_512:g.165963C>G
LRG_512p1:p.Pro2225Ala
NC_000005.9:g.176721042C>G
NM_001365684.1:c.5866C>G
NM_022455.4:c.6673C>G
NM_172349.3:c.5866C>G

Protein change:

P1851A

Links:

dbSNP: rs1418961998

NCBI 1000 Genomes Browser:

rs1418961998

Molecular consequence:

NM_001365684.2:c.5800C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001409301.1:c.6673C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001409302.1:c.6673C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001409303.1:c.6673C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001409304.1:c.6253C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001409305.1:c.5920C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001409306.1:c.5911C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001409307.1:c.5911C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001409308.1:c.5800C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001409309.1:c.5551C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_022455.5:c.6673C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_172349.5:c.5800C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

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Mus musculus dysbindin (dystrobrevin binding protein 1) domain containing 1 (Dbn...
Mus musculus dysbindin (dystrobrevin binding protein 1) domain containing 1 (Dbndd1), mRNA
gi|13605925|ref|NM_028146.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002661767	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jul 12, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002661767

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jul 12, 2019)

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, SCV002661767.2

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

Description

The p.P2225A variant (also known as c.6673C>G), located in coding exon 22 of the NSD1 gene, results from a C to G substitution at nucleotide position 6673. The proline at codon 2225 is replaced by alanine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated 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: Oct 26, 2024

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