U.S. flag

An official website of the United States government

NM_003244.4(TGIF1):c.123C>T (p.Asn41=) AND not provided

Germline classification:
Likely benign (2 submissions)
Last evaluated:
Jul 1, 2023
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:
RCV001668492.6

Allele description

NM_003244.4(TGIF1):c.123C>T (p.Asn41=)

Gene:
TGIF1:TGFB induced factor homeobox 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18p11.31
Genomic location:
Preferred name:
NM_003244.4(TGIF1):c.123C>T (p.Asn41=)
HGVS:
  • NC_000018.10:g.3456460C>T
  • NG_007447.2:g.49387C>T
  • NM_001278682.2:c.132C>T
  • NM_001278684.2:c.123C>T
  • NM_001278686.3:c.63C>T
  • NM_001374396.1:c.63C>T
  • NM_001374397.1:c.63C>T
  • NM_003244.4:c.123C>TMANE SELECT
  • NM_170695.5:c.63C>T
  • NM_173207.4:c.165C>T
  • NM_173208.3:c.123C>T
  • NM_173209.3:c.63C>T
  • NM_173210.4:c.63C>T
  • NM_173211.2:c.63C>T
  • NM_174886.3:c.63C>T
  • NP_001265611.1:p.Asn44=
  • NP_001265613.1:p.Asn41=
  • NP_001265615.1:p.Asn21=
  • NP_001361325.1:p.Asn21=
  • NP_001361326.1:p.Asn21=
  • NP_003235.1:p.Asn41=
  • NP_003235.1:p.Asn41=
  • NP_733796.3:p.Asn21=
  • NP_775299.1:p.Asn55=
  • NP_775300.1:p.Asn41=
  • NP_775300.1:p.Asn41=
  • NP_775301.1:p.Asn21=
  • NP_775302.1:p.Asn21=
  • NP_775303.1:p.Asn21=
  • NP_777480.1:p.Asn21=
  • NC_000018.9:g.3456458C>T
  • NM_003244.2:c.123C>T
  • NM_003244.3:c.123C>T
  • NM_173208.2:c.123C>T
Links:
dbSNP: rs138292737
NCBI 1000 Genomes Browser:
rs138292737
Molecular consequence:
  • NM_001278682.2:c.132C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001278684.2:c.123C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001278686.3:c.63C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001374396.1:c.63C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001374397.1:c.63C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_003244.4:c.123C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_170695.5:c.63C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_173207.4:c.165C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_173208.3:c.123C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_173209.3:c.63C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_173210.4:c.63C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_173211.2:c.63C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_174886.3:c.63C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
3

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001887991GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Likely benign
(Mar 9, 2021)
germlineclinical testing

Citation Link,

SCV004144764CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)
Likely benign
(Jul 1, 2023)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes3not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV001887991.1

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

From CeGaT Center for Human Genetics Tuebingen, SCV004144764.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided

Description

TGIF1: BP4, BP7

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided3not providednot providednot provided

Last Updated: Apr 15, 2024