NM_182548.4(LHFPL5):c.649+1del AND Ear malformation

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 10, 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:: RCV001813935.2

Allele description [Variation Report for NM_182548.4(LHFPL5):c.649+1del]

NM_182548.4(LHFPL5):c.649+1del

Gene:

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

Variant type:

Deletion

Cytogenetic location:

6p21.31

Genomic location:

Preferred name:

NM_182548.4(LHFPL5):c.649+1del

HGVS:

NC_000006.12:g.35814783del
NG_012184.3:g.22578del
NM_182548.4:c.649+1delMANE SELECT
LRG_1352t1:c.649+1del
LRG_1352:g.22578del
NC_000006.11:g.35782560del
NM_182548.3:c.649+1del
NM_182548.4:c.649+1delGMANE SELECT

Note:

ClinGen staff contributed the HGVS expression for this variant.

Links:

OMIM: 609427.0003; dbSNP: rs1581972457

NCBI 1000 Genomes Browser:

rs1581972457

Molecular consequence:

NM_182548.4:c.649+1del - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:: Ear malformation
Synonyms:: CUP EAR; Abnormality of the ear
Identifiers:: MONDO: MONDO:0007500; MedGen: C0266589; OMIM: 128600; Human Phenotype Ontology: HP:0000598

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001755153	Kariminejad - Najmabadi Pathology & Genetics Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jul 10, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001755153

Kariminejad - Najmabadi Pathology & Genetics Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jul 10, 2021)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Kariminejad - Najmabadi Pathology & Genetics Center, SCV001755153.1

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

#	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: Sep 16, 2024

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