NM_031949.5(TTLL2):c.1295A>G (p.His432Arg) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 17, 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:: RCV004481442.1

Allele description [Variation Report for NM_031949.5(TTLL2):c.1295A>G (p.His432Arg)]

NM_031949.5(TTLL2):c.1295A>G (p.His432Arg)

Gene:

TTLL2:tubulin tyrosine ligase like 2 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q27

Genomic location:

Preferred name:

NM_031949.5(TTLL2):c.1295A>G (p.His432Arg)

HGVS:

NC_000006.12:g.167341195A>G
NM_001410948.1:c.1076A>G
NM_031949.5:c.1295A>GMANE SELECT
NP_001397877.1:p.His359Arg
NP_114155.4:p.His432Arg
NC_000006.11:g.167754683A>G
NM_031949.4:c.1295A>G

Protein change:

H359R

Molecular consequence:

NM_001410948.1:c.1076A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_031949.5:c.1295A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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hypothetical protein B296_00037348 [Ensete ventricosum]
hypothetical protein B296_00037348 [Ensete ventricosum]
gi|1532856299|gb|RRT36401.1||gnl|WG H|B296_00037348-RA

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004974779	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Oct 17, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004974779

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Oct 17, 2023)

germline

clinical testing

Citation Link

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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, SCV004974779.1

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

Description

The c.1295A>G (p.H432R) alteration is located in exon 3 (coding exon 3) of the TTLL2 gene. This alteration results from a A to G substitution at nucleotide position 1295, causing the histidine (H) at amino acid position 432 to be replaced by an arginine (R). 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

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