NM_022455.5(NSD1):c.3089T>C (p.Leu1030Ser) AND not specified

Germline classification:: Benign (1 submission)
Last evaluated:: Feb 8, 2013
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:: RCV000146801.13

Allele description [Variation Report for NM_022455.5(NSD1):c.3089T>C (p.Leu1030Ser)]

NM_022455.5(NSD1):c.3089T>C (p.Leu1030Ser)

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.3089T>C (p.Leu1030Ser)

HGVS:

NC_000005.10:g.177211488T>C
NG_009821.1:g.83410T>C
NM_001365684.2:c.2216T>C
NM_001409301.1:c.3089T>C
NM_001409302.1:c.3089T>C
NM_001409303.1:c.3089T>C
NM_001409304.1:c.2669T>C
NM_001409305.1:c.2336T>C
NM_001409306.1:c.2216T>C
NM_001409307.1:c.2216T>C
NM_001409308.1:c.2216T>C
NM_001409309.1:c.2216T>C
NM_022455.5:c.3089T>CMANE SELECT
NM_172349.5:c.2216T>C
NP_001352613.1:p.Leu761Ser
NP_001352613.2:p.Leu739Ser
NP_001396230.1:p.Leu1030Ser
NP_001396231.1:p.Leu1030Ser
NP_001396232.1:p.Leu1030Ser
NP_001396233.1:p.Leu890Ser
NP_001396234.1:p.Leu779Ser
NP_001396235.1:p.Leu739Ser
NP_001396236.1:p.Leu739Ser
NP_001396237.1:p.Leu739Ser
NP_001396238.1:p.Leu739Ser
NP_071900.2:p.Leu1030Ser
NP_071900.2:p.Leu1030Ser
NP_758859.1:p.Leu761Ser
NP_758859.2:p.Leu739Ser
LRG_512t1:c.3089T>C
LRG_512:g.83410T>C
LRG_512p1:p.Leu1030Ser
NC_000005.9:g.176638489T>C
NM_001365684.1:c.2282T>C
NM_022455.4:c.3089T>C
NM_172349.3:c.2282T>C

Protein change:

L1030S

Links:

dbSNP: rs200856103

NCBI 1000 Genomes Browser:

rs200856103

Molecular consequence:

NM_001365684.2:c.2216T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001409301.1:c.3089T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001409302.1:c.3089T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001409303.1:c.3089T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001409304.1:c.2669T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001409305.1:c.2336T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001409306.1:c.2216T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001409307.1:c.2216T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001409308.1:c.2216T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001409309.1:c.2216T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_022455.5:c.3089T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_172349.5:c.2216T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000194127	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2007)	Benign (Feb 8, 2013)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000194127

Genetic Services Laboratory, University of Chicago

criteria provided, single submitter

(ACMG Guidelines, 2007)

Benign
(Feb 8, 2013)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Citations

PubMed

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, Lyon E, Ward BE; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee..

Genet Med. 2008 Apr;10(4):294-300. doi: 10.1097/GIM.0b013e31816b5cae.

PubMed [citation]

PMID:: 18414213

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV000194127.1

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

#	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: Nov 10, 2024

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