NM_001159699.2(FHL1):c.494_496del (p.Tyr165del) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 25, 2016
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:: RCV000408148.4

Allele description [Variation Report for NM_001159699.2(FHL1):c.494_496del (p.Tyr165del)]

NM_001159699.2(FHL1):c.494_496del (p.Tyr165del)

Gene:

FHL1:four and a half LIM domains 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

Xq26.3

Genomic location:

Preferred name:

NM_001159699.2(FHL1):c.494_496del (p.Tyr165del)

HGVS:

NC_000023.11:g.136207906_136207908del
NG_015895.1:g.65507_65509del
NM_001159699.2:c.494_496delMANE SELECT
NM_001159700.2:c.446_448del
NM_001159701.2:c.533_535del
NM_001159702.3:c.446_448del
NM_001159703.2:c.446_448del
NM_001159704.1:c.446_448del
NM_001167819.1:c.446_448del
NM_001330659.2:c.494_496del
NM_001369326.1:c.446_448del
NM_001369327.2:c.446_448del
NM_001369328.1:c.446_448del
NM_001369329.1:c.446_448del
NM_001369330.1:c.446_448del
NM_001369331.1:c.446_448del
NM_001449.5:c.446_448del
NP_001153171.1:p.Tyr165del
NP_001153172.1:p.Tyr149del
NP_001153173.1:p.Tyr178del
NP_001153174.1:p.Tyr149del
NP_001153175.1:p.Tyr149del
NP_001153176.1:p.Tyr149del
NP_001161291.1:p.Tyr149del
NP_001317588.1:p.Tyr165del
NP_001356255.1:p.Tyr149del
NP_001356256.1:p.Tyr149del
NP_001356257.1:p.Tyr149del
NP_001356258.1:p.Tyr149del
NP_001356259.1:p.Tyr149del
NP_001356260.1:p.Tyr149del
NP_001440.2:p.Tyr149del
LRG_739t1:c.494_496del
LRG_739t2:c.446_448del
LRG_739:g.65507_65509del
LRG_739p1:p.Tyr165del
LRG_739p2:p.Tyr149del
NC_000023.10:g.135290063_135290065del
NC_000023.10:g.135290065_135290067del
NR_027621.2:n.857_859del

Protein change:

Y149del

Links:

dbSNP: rs886044209

NCBI 1000 Genomes Browser:

rs886044209

Molecular consequence:

NM_001159699.2:c.494_496del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001159700.2:c.446_448del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001159701.2:c.533_535del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001159702.3:c.446_448del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001159703.2:c.446_448del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001159704.1:c.446_448del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001167819.1:c.446_448del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001330659.2:c.494_496del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001369326.1:c.446_448del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001369327.2:c.446_448del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001369328.1:c.446_448del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001369329.1:c.446_448del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001369330.1:c.446_448del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001369331.1:c.446_448del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001449.5:c.446_448del - inframe_deletion - [Sequence Ontology: SO:0001822]
NR_027621.2:n.857_859del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Indians, South American
Indians, South American
Members of indigenous South American populations with pre-colonial contact origins.<br/>

MeSH
Medication Reconciliation
Medication Reconciliation
The formal process of obtaining a complete and accurate list of each patient's current home medications including name, dosage, frequency, and route of administration, and com...<br/>Year introduced: 2011

MeSH
Comprehensive Dental Care
Comprehensive Dental Care
Providing for the full range of dental health services for diagnosis, treatment, follow-up, and rehabilitation of patients.<br/>Year introduced: 1973

MeSH
Central Asian People
Central Asian People
People native to or inhabitants of CENTRAL ASIA including KAZAKHSTAN; KYRGYZSTAN; TAJIKISTAN; TURKMENISTAN and UZBEKISTAN.<br/>Year introduced: 2023

MeSH
HAO1 hydroxyacid oxidase 1 [Canis lupus familiaris]
HAO1 hydroxyacid oxidase 1 [Canis lupus familiaris]
Gene ID:485774

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000343951	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Uncertain significance (Jul 25, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000343951

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Uncertain significance
(Jul 25, 2016)

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	2	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000343951.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	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	unknown	not provided	not provided	not provided		2	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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