NM_182548.4(LHFPL5):c.460T>A (p.Ser154Thr) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 22, 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:: RCV002545446.3

Allele description [Variation Report for NM_182548.4(LHFPL5):c.460T>A (p.Ser154Thr)]

NM_182548.4(LHFPL5):c.460T>A (p.Ser154Thr)

Gene:

LHFPL5:LHFPL tetraspan subfamily member 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.31

Genomic location:

Preferred name:

NM_182548.4(LHFPL5):c.460T>A (p.Ser154Thr)

HGVS:

NC_000006.12:g.35814593T>A
NG_012184.3:g.22388T>A
NM_182548.3:c.460T>A
NM_182548.4:c.460T>AMANE SELECT
NP_872354.1:p.Ser154Thr
LRG_1352t1:c.460T>A
LRG_1352:g.22388T>A
LRG_1352p1:p.Ser154Thr
NC_000006.11:g.35782370T>A
NG_012184.2:g.14300T>A

Protein change:

S154T

Links:

dbSNP: rs147861688

NCBI 1000 Genomes Browser:

rs147861688

Molecular consequence:

NM_182548.4:c.460T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

Recent activity

Clear Turn Off Turn On

Human DNA sequence from clone RP11-358D14 on chromosome 20, complete sequence
Human DNA sequence from clone RP11-358D14 on chromosome 20, complete sequence
gi|13277056|emb|AL353658.33|

Nucleotide

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003596734	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jun 22, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003596734

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jun 22, 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, SCV003596734.3

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

Description

The c.460T>A (p.S154T) alteration is located in exon 2 (coding exon 2) of the LHFPL5 gene. This alteration results from a T to A substitution at nucleotide position 460, causing the serine (S) at amino acid position 154 to be replaced by a threonine (T). 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: Sep 29, 2024

ClinVar

Relating variation to medicine