U.S. flag

An official website of the United States government

NM_022455.5(NSD1):c.3330C>T (p.Phe1110=) AND not provided

Germline classification:
Benign (2 submissions)
Last evaluated:
Jul 1, 2024
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV001532055.27

Allele description [Variation Report for NM_022455.5(NSD1):c.3330C>T (p.Phe1110=)]

NM_022455.5(NSD1):c.3330C>T (p.Phe1110=)

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.3330C>T (p.Phe1110=)
HGVS:
  • NC_000005.10:g.177211729C>T
  • NG_009821.1:g.83651C>T
  • NM_001365684.2:c.2457C>T
  • NM_001409301.1:c.3330C>T
  • NM_001409302.1:c.3330C>T
  • NM_001409303.1:c.3330C>T
  • NM_001409304.1:c.2910C>T
  • NM_001409305.1:c.2577C>T
  • NM_001409306.1:c.2457C>T
  • NM_001409307.1:c.2457C>T
  • NM_001409308.1:c.2457C>T
  • NM_001409309.1:c.2457C>T
  • NM_022455.5:c.3330C>TMANE SELECT
  • NM_172349.5:c.2457C>T
  • NP_001352613.2:p.Phe819=
  • NP_001396230.1:p.Phe1110=
  • NP_001396231.1:p.Phe1110=
  • NP_001396232.1:p.Phe1110=
  • NP_001396233.1:p.Phe970=
  • NP_001396234.1:p.Phe859=
  • NP_001396235.1:p.Phe819=
  • NP_001396236.1:p.Phe819=
  • NP_001396237.1:p.Phe819=
  • NP_001396238.1:p.Phe819=
  • NP_071900.2:p.Phe1110=
  • NP_071900.2:p.Phe1110=
  • NP_758859.2:p.Phe819=
  • LRG_512t1:c.3330C>T
  • LRG_512:g.83651C>T
  • LRG_512p1:p.Phe1110=
  • NC_000005.9:g.176638730C>T
  • NM_022455.4:c.3330C>T
Links:
dbSNP: rs541077303
NCBI 1000 Genomes Browser:
rs541077303
Molecular consequence:
  • NM_001365684.2:c.2457C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001409301.1:c.3330C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001409302.1:c.3330C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001409303.1:c.3330C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001409304.1:c.2910C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001409305.1:c.2577C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001409306.1:c.2457C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001409307.1:c.2457C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001409308.1:c.2457C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001409309.1:c.2457C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_022455.5:c.3330C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_172349.5:c.2457C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
16

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001747437CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Benign
(Jul 1, 2024) 		germlineclinical testing

Citation Link,

SCV001988678GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Benign
(Jun 29, 2021) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes16not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV001747437.20

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided16not providednot providedclinical testingnot provided

Description

NSD1: BP4, BP7, BS1, BS2

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided16not providednot providednot provided

From GeneDx, SCV001988678.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 24, 2024