NM_133259.4(LRPPRC):c.1846G>A (p.Val616Ile) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 30, 2021
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:: RCV001806685.2

Allele description [Variation Report for NM_133259.4(LRPPRC):c.1846G>A (p.Val616Ile)]

NM_133259.4(LRPPRC):c.1846G>A (p.Val616Ile)

Gene:

LRPPRC:leucine rich pentatricopeptide repeat containing [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p21

Genomic location:

Preferred name:

NM_133259.4(LRPPRC):c.1846G>A (p.Val616Ile)

HGVS:

NC_000002.12:g.43948196C>T
NG_008247.1:g.52810G>A
NM_133259.4:c.1846G>AMANE SELECT
NP_573566.2:p.Val616Ile
NC_000002.11:g.44175335C>T
NM_133259.3:c.1846G>A

Protein change:

V616I

Links:

dbSNP: rs1229301675

NCBI 1000 Genomes Browser:

rs1229301675

Molecular consequence:

NM_133259.4:c.1846G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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glycogenin-2 isoform d [Homo sapiens]
glycogenin-2 isoform d [Homo sapiens]
gi|296040445|ref|NP_001171632.1|

Protein
Acartia tonsa isolate ATON_BI_5 18S ribosomal RNA gene, partial sequence
Acartia tonsa isolate ATON_BI_5 18S ribosomal RNA gene, partial sequence
gi|932355539|gb|KP768152.1|

Nucleotide
Sapphirina scarlata voucher IOCAS:Hd060803 sasc cytochrome oxidase subunit I (CO...
Sapphirina scarlata voucher IOCAS:Hd060803 sasc cytochrome oxidase subunit I (COX1) gene, partial cds; mitochondrial
gi|295443204|gb|HM045348.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002050684	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Jun 30, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002050684

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Jun 30, 2021)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV002050684.2

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 1, 2024

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