NM_022455.5(NSD1):c.3277A>C (p.Ile1093Leu) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 18, 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:: RCV003223897.1

Allele description [Variation Report for NM_022455.5(NSD1):c.3277A>C (p.Ile1093Leu)]

NM_022455.5(NSD1):c.3277A>C (p.Ile1093Leu)

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.3277A>C (p.Ile1093Leu)

HGVS:

NC_000005.10:g.177211676A>C
NG_009821.1:g.83598A>C
NM_001365684.2:c.2404A>C
NM_001409301.1:c.3277A>C
NM_001409302.1:c.3277A>C
NM_001409303.1:c.3277A>C
NM_001409304.1:c.2857A>C
NM_001409305.1:c.2524A>C
NM_001409306.1:c.2404A>C
NM_001409307.1:c.2404A>C
NM_001409308.1:c.2404A>C
NM_001409309.1:c.2404A>C
NM_022455.5:c.3277A>CMANE SELECT
NM_172349.5:c.2404A>C
NP_001352613.2:p.Ile802Leu
NP_001396230.1:p.Ile1093Leu
NP_001396231.1:p.Ile1093Leu
NP_001396232.1:p.Ile1093Leu
NP_001396233.1:p.Ile953Leu
NP_001396234.1:p.Ile842Leu
NP_001396235.1:p.Ile802Leu
NP_001396236.1:p.Ile802Leu
NP_001396237.1:p.Ile802Leu
NP_001396238.1:p.Ile802Leu
NP_071900.2:p.Ile1093Leu
NP_071900.2:p.Ile1093Leu
NP_758859.2:p.Ile802Leu
LRG_512t1:c.3277A>C
LRG_512:g.83598A>C
LRG_512p1:p.Ile1093Leu
NC_000005.9:g.176638677A>C
NM_022455.4:c.3277A>C

Protein change:

I1093L

Molecular consequence:

NM_001365684.2:c.2404A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001409301.1:c.3277A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001409302.1:c.3277A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001409303.1:c.3277A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001409304.1:c.2857A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001409305.1:c.2524A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001409306.1:c.2404A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001409307.1:c.2404A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001409308.1:c.2404A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001409309.1:c.2404A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_022455.5:c.3277A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_172349.5:c.2404A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003919378	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Oct 18, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003919378

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Oct 18, 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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV003919378.1

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

Description

Not observed in large population cohorts (gnomAD); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 30, 2023

ClinVar

Relating variation to medicine