NM_018259.6(TTC17):c.3145A>G (p.Met1049Val) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 9, 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:: RCV004479018.1

Allele description [Variation Report for NM_018259.6(TTC17):c.3145A>G (p.Met1049Val)]

NM_018259.6(TTC17):c.3145A>G (p.Met1049Val)

Gene:

TTC17:tetratricopeptide repeat domain 17 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p11.2

Genomic location:

Preferred name:

NM_018259.6(TTC17):c.3145A>G (p.Met1049Val)

HGVS:

NC_000011.10:g.43490353A>G
NM_001376525.1:c.3316A>G
NM_001376526.1:c.3055A>G
NM_001376527.1:c.2731A>G
NM_001376528.1:c.2647A>G
NM_018259.6:c.3145A>GMANE SELECT
NP_001363454.1:p.Met1106Val
NP_001363455.1:p.Met1019Val
NP_001363456.1:p.Met911Val
NP_001363457.1:p.Met883Val
NP_060729.2:p.Met1049Val
NC_000011.9:g.43511903A>G
NM_018259.5:c.3145A>G
NR_164823.1:n.5422A>G
NR_164824.1:n.3512A>G

Protein change:

M1019V

Molecular consequence:

NM_001376525.1:c.3316A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001376526.1:c.3055A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001376527.1:c.2731A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001376528.1:c.2647A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_018259.6:c.3145A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_164823.1:n.5422A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_164824.1:n.3512A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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10881[geneid] (84)
ClinVar
zinc finger protein CONSTANS-LIKE 16-like [Cucurbita moschata]
zinc finger protein CONSTANS-LIKE 16-like [Cucurbita moschata]
gi|1279785339|ref|XP_022945565.1|

Protein
dof zinc finger protein DOF5.4-like [Cucurbita maxima]
dof zinc finger protein DOF5.4-like [Cucurbita maxima]
gi|1280983211|ref|XP_022970312.1|

Protein
DNA-directed RNA polymerases II and V subunit 8A-like [Cucumis melo]
DNA-directed RNA polymerases II and V subunit 8A-like [Cucumis melo]
gi|659107632|ref|XP_008453774.1|

Protein
cytochrome P450 90B1 [Cucurbita pepo subsp. pepo]
cytochrome P450 90B1 [Cucurbita pepo subsp. pepo]
gi|1333095679|ref|XP_023549515.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004972644	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 9, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004972644

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 9, 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, SCV004972644.1

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

Description

The c.3145A>G (p.M1049V) alteration is located in exon 22 (coding exon 22) of the TTC17 gene. This alteration results from a A to G substitution at nucleotide position 3145, causing the methionine (M) at amino acid position 1049 to be replaced by a valine (V). 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 7, 2024

ClinVar

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