NM_015179.4(RRP12):c.1739C>T (p.Thr580Met) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 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:: RCV004298263.1

Allele description [Variation Report for NM_015179.4(RRP12):c.1739C>T (p.Thr580Met)]

NM_015179.4(RRP12):c.1739C>T (p.Thr580Met)

Gene:

RRP12:ribosomal RNA processing 12 homolog [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q24.1

Genomic location:

Preferred name:

NM_015179.4(RRP12):c.1739C>T (p.Thr580Met)

HGVS:

NC_000010.11:g.97379352G>A
NM_001145114.1:c.1556C>T
NM_001284337.2:c.1439C>T
NM_015179.4:c.1739C>TMANE SELECT
NP_001138586.1:p.Thr519Met
NP_001271266.1:p.Thr480Met
NP_055994.2:p.Thr580Met
NC_000010.10:g.99139109G>A
NM_015179.3:c.1739C>T

Protein change:

T480M

Molecular consequence:

NM_001145114.1:c.1556C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001284337.2:c.1439C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_015179.4:c.1739C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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KR 1020230047502-A/1208: SYNERGISTIC BACTERIAL COMPOSITIONS AND METHODS OF PRODU...
KR 1020230047502-A/1208: SYNERGISTIC BACTERIAL COMPOSITIONS AND METHODS OF PRODUCTION AND USE THEREOF
gi|2679012341|dbj|PF059203.1||pat|K 0230047502|1208

Nucleotide
PREDICTED: Olea europaea var. sylvestris NAC domain-containing protein 90-like (...
PREDICTED: Olea europaea var. sylvestris NAC domain-containing protein 90-like (LOC111404974), mRNA
gi|1279055189|ref|XM_023033695.1|

Nucleotide
LRTM1 leucine rich repeats and transmembrane domains 1 [Equus caballus]
LRTM1 leucine rich repeats and transmembrane domains 1 [Equus caballus]
Gene ID:106781789

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003950388	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (May 17, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003950388

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(May 17, 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, SCV003950388.2

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

Description

The c.1739C>T (p.T580M) alteration is located in exon 15 (coding exon 15) of the RRP12 gene. This alteration results from a C to T substitution at nucleotide position 1739, causing the threonine (T) at amino acid position 580 to be replaced by a methionine (M). 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: Nov 10, 2024

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