NM_022455.5(NSD1):c.3014T>G (p.Leu1005Arg) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 12, 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:: RCV003367311.2

Allele description [Variation Report for NM_022455.5(NSD1):c.3014T>G (p.Leu1005Arg)]

NM_022455.5(NSD1):c.3014T>G (p.Leu1005Arg)

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.3014T>G (p.Leu1005Arg)

HGVS:

NC_000005.10:g.177211413T>G
NG_009821.1:g.83335T>G
NM_001365684.2:c.2141T>G
NM_001409301.1:c.3014T>G
NM_001409302.1:c.3014T>G
NM_001409303.1:c.3014T>G
NM_001409304.1:c.2594T>G
NM_001409305.1:c.2261T>G
NM_001409306.1:c.2141T>G
NM_001409307.1:c.2141T>G
NM_001409308.1:c.2141T>G
NM_001409309.1:c.2141T>G
NM_022455.5:c.3014T>GMANE SELECT
NM_172349.5:c.2141T>G
NP_001352613.2:p.Leu714Arg
NP_001396230.1:p.Leu1005Arg
NP_001396231.1:p.Leu1005Arg
NP_001396232.1:p.Leu1005Arg
NP_001396233.1:p.Leu865Arg
NP_001396234.1:p.Leu754Arg
NP_001396235.1:p.Leu714Arg
NP_001396236.1:p.Leu714Arg
NP_001396237.1:p.Leu714Arg
NP_001396238.1:p.Leu714Arg
NP_071900.2:p.Leu1005Arg
NP_071900.2:p.Leu1005Arg
NP_758859.2:p.Leu714Arg
LRG_512t1:c.3014T>G
LRG_512:g.83335T>G
LRG_512p1:p.Leu1005Arg
NC_000005.9:g.176638414T>G
NM_022455.4:c.3014T>G

Protein change:

L1005R

Molecular consequence:

NM_001365684.2:c.2141T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001409301.1:c.3014T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001409302.1:c.3014T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001409303.1:c.3014T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001409304.1:c.2594T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001409305.1:c.2261T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001409306.1:c.2141T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001409307.1:c.2141T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001409308.1:c.2141T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001409309.1:c.2141T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_022455.5:c.3014T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_172349.5:c.2141T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

Clear Turn Off Turn On

BORCS5 BLOC-1 related complex subunit 5 [Homo sapiens]
BORCS5 BLOC-1 related complex subunit 5 [Homo sapiens]
Gene ID:118426

Gene
Gene Links for OMIM (Select 616598) (1)
Gene

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
SCV004083475	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jul 12, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004083475

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jul 12, 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 Ambry Genetics, SCV004083475.2

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

Description

The c.3014T>G (p.L1005R) alteration is located in exon 5 (coding exon 4) of the NSD1 gene. This alteration results from a T to G substitution at nucleotide position 3014, causing the leucine (L) at amino acid position 1005 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, 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

ClinVar

Relating variation to medicine