NM_001134888.3(RTL1):c.1418G>C (p.Trp473Ser) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 14, 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:: RCV004364955.1

Allele description [Variation Report for NM_001134888.3(RTL1):c.1418G>C (p.Trp473Ser)]

NM_001134888.3(RTL1):c.1418G>C (p.Trp473Ser)

Gene:

RTL1:retrotransposon Gag like 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q32.2

Genomic location:

Preferred name:

NM_001134888.3(RTL1):c.1418G>C (p.Trp473Ser)

HGVS:

NC_000014.9:g.100883371C>G
NG_045000.6:g.52103C>G
NG_045001.2:g.25352G>C
NM_001134888.3:c.1418G>CMANE SELECT
NP_001128360.1:p.Trp473Ser
LRG_1059t1:c.1418G>C
LRG_1058:g.52103C>G
LRG_1059:g.25352G>C
LRG_1059p1:p.Trp473Ser
NC_000014.8:g.101349708C>G
NM_001134888.2:c.1418G>C

Protein change:

W473S

Molecular consequence:

NM_001134888.3:c.1418G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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transmembrane protein 126A isoform 1 [Homo sapiens]
transmembrane protein 126A isoform 1 [Homo sapiens]
gi|14150017|ref|NP_115649.1|

Protein
protocadherin gamma-A10 isoform 1 precursor [Homo sapiens]
protocadherin gamma-A10 isoform 1 precursor [Homo sapiens]
gi|11128041|ref|NP_061736.1|

Protein
Chain 6, Putative ribosome-binding factor A, mitochondrial
Chain 6, Putative ribosome-binding factor A, mitochondrial
gi|2413506446|pdb|8CSU|6

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004090757	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Aug 14, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004090757

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Aug 14, 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, SCV004090757.2

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

Description

The c.1418G>C (p.W473S) alteration is located in exon 1 (coding exon 1) of the RTL1 gene. This alteration results from a G to C substitution at nucleotide position 1418, causing the tryptophan (W) at amino acid position 473 to be replaced by a serine (S). 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: Oct 26, 2024

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