NM_018226.6(RNPEPL1):c.293C>T (p.Ala98Val) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 20, 2024
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:: RCV004674151.1

Allele description [Variation Report for NM_018226.6(RNPEPL1):c.293C>T (p.Ala98Val)]

NM_018226.6(RNPEPL1):c.293C>T (p.Ala98Val)

Genes:

LOC129935981:ATAC-STARR-seq lymphoblastoid silent region 12519 [Gene]
RNPEPL1:arginyl aminopeptidase like 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q37.3

Genomic location:

Preferred name:

NM_018226.6(RNPEPL1):c.293C>T (p.Ala98Val)

HGVS:

NC_000002.12:g.240568879C>T
NG_098296.1:g.49C>T
NG_098296.2:g.49C>T
NG_168992.1:g.289C>T
NM_018226.6:c.293C>TMANE SELECT
NP_060696.4:p.Ala98Val
NC_000002.11:g.241508296C>T
NM_018226.4:c.293C>T

Protein change:

A98V

Molecular consequence:

NM_018226.6:c.293C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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Scelotes sexlineatus isolate S3 18S ribosomal RNA gene, partial sequence
gi|33385385|gb|AY217933.1|

Nucleotide
Plestiodon inexpectatus isolate S9 18S ribosomal RNA gene, partial sequence
Plestiodon inexpectatus isolate S9 18S ribosomal RNA gene, partial sequence
gi|33385391|gb|AY217939.1|

Nucleotide
Xantusia vigilis isolate X2 18S ribosomal RNA gene, partial sequence
Xantusia vigilis isolate X2 18S ribosomal RNA gene, partial sequence
gi|33385394|gb|AY217942.1|

Nucleotide
Triacanthodes anomalus hypothetical protein (ptr) gene, partial cds
Triacanthodes anomalus hypothetical protein (ptr) gene, partial cds
gi|394767870|gb|JX190242.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005156001	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (May 20, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005156001

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(May 20, 2024)

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, SCV005156001.1

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

Description

The c.293C>T (p.A98V) alteration is located in exon 1 (coding exon 1) of the RNPEPL1 gene. This alteration results from a C to T substitution at nucleotide position 293, causing the alanine (A) at amino acid position 98 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: Aug 11, 2024

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