NM_144596.4(TTC8):c.1417A>G (p.Thr473Ala) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 1, 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:: RCV001090624.22

Allele description [Variation Report for NM_144596.4(TTC8):c.1417A>G (p.Thr473Ala)]

NM_144596.4(TTC8):c.1417A>G (p.Thr473Ala)

Gene:

TTC8:tetratricopeptide repeat domain 8 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q31.3

Genomic location:

Preferred name:

NM_144596.4(TTC8):c.1417A>G (p.Thr473Ala)

HGVS:

NC_000014.9:g.88875095A>G
NG_008126.2:g.55943A>G
NM_001288781.1:c.1465A>G
NM_001288782.1:c.823A>G
NM_001288783.1:c.700A>G
NM_001366535.2:c.1318-2199A>G
NM_001366536.2:c.1228-2199A>G
NM_144596.4:c.1417A>GMANE SELECT
NM_198309.3:c.1387A>G
NM_198310.3:c.1297A>G
NP_001275710.1:p.Thr489Ala
NP_001275711.1:p.Thr275Ala
NP_001275712.1:p.Thr234Ala
NP_653197.2:p.Thr473Ala
NP_938051.1:p.Thr463Ala
NP_938052.1:p.Thr433Ala
NC_000014.8:g.89341439A>G
NG_008126.1:g.55462A>G
NM_144596.3:c.1417A>G
NM_198309.2:c.1387A>G
NR_159362.2:n.1504A>G

Protein change:

T234A

Links:

dbSNP: rs376411291

NCBI 1000 Genomes Browser:

rs376411291

Molecular consequence:

NM_001366535.2:c.1318-2199A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001366536.2:c.1228-2199A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001288781.1:c.1465A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001288782.1:c.823A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001288783.1:c.700A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_144596.4:c.1417A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_198309.3:c.1387A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_198310.3:c.1297A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_159362.2:n.1504A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001246269	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Uncertain significance (Sep 1, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001246269

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Uncertain significance
(Sep 1, 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	3	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV001246269.26

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	3	not provided	not provided	clinical testing	not provided

#	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		3	not provided	not provided	not provided

Last Updated: Oct 20, 2024

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