NM_001040616.3(LINS1):c.786_842del (p.Arg263_Ser281del) AND Intellectual disability, autosomal recessive 27

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 1, 2020
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:: RCV001264803.1

Allele description [Variation Report for NM_001040616.3(LINS1):c.786_842del (p.Arg263_Ser281del)]

NM_001040616.3(LINS1):c.786_842del (p.Arg263_Ser281del)

Gene:

LINS1:lines homolog 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

15q26.3

Genomic location:

Preferred name:

NM_001040616.3(LINS1):c.786_842del (p.Arg263_Ser281del)

HGVS:

NC_000015.10:g.100574033_100574089del
NG_034076.2:g.33946_34002del
NM_001040616.3:c.786_842delMANE SELECT
NM_001352507.2:c.39_95del
NM_001352508.2:c.741_797del
NP_001035706.2:p.Arg263_Ser281del
NP_001339436.1:p.Arg14_Ser32del
NP_001339437.1:p.Arg248_Ser266del
NC_000015.9:g.101114238_101114294del
NG_034076.1:g.33154_33210del
NM_001040616.2:c.786_842del
NR_148017.2:n.953_1009del
NR_148018.2:n.953_1009del
NR_148019.2:n.957_1013del

Links:

dbSNP: rs2038007278

NCBI 1000 Genomes Browser:

rs2038007278

Molecular consequence:

NM_001040616.3:c.786_842del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001352507.2:c.39_95del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001352508.2:c.741_797del - inframe_deletion - [Sequence Ontology: SO:0001822]
NR_148017.2:n.953_1009del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148018.2:n.953_1009del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148019.2:n.957_1013del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Intellectual disability, autosomal recessive 27 (MRT27)
Synonyms:: Mental retardation, autosomal recessive 27; Intellectual developmental disorder, autosomal recessive 27
Identifiers:: MONDO: MONDO:0013702; MedGen: C3280538; Orphanet: 88616; OMIM: 614340

Recent activity

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Model organism or animal sample from Sorex cinereus
Model organism or animal sample from Sorex cinereus

biosample
WATER AND COMPOUND CONSUMPTION IN THE 27- AND 43-WEEK DRINKING WATER STUDIES OF ...
WATER AND COMPOUND CONSUMPTION IN THE 27- AND 43-WEEK DRINKING WATER STUDIES OF SODIUM BROMATE - NTP Genetically Modified Model Report on the Toxicology Studies of Sodium Bromate (CASRN 7789-38-0) in Genetically Modified (FVB Tg.AC Hemizygous) Mice (Dermal and Drinking Water Studies) and Carcinogenicity Studies of Sodium Bromate in Genetically Modified [B6.129-Trp53tm1Brd (N5) Haploinsufficient] Mice (Drinking Water Studies)
CLINICAL PATHOLOGY RESULTS - NTP Genetically Modified Model Report on the Toxico...
CLINICAL PATHOLOGY RESULTS - NTP Genetically Modified Model Report on the Toxicology Studies of Sodium Bromate (CASRN 7789-38-0) in Genetically Modified (FVB Tg.AC Hemizygous) Mice (Dermal and Drinking Water Studies) and Carcinogenicity Studies of Sodium Bromate in Genetically Modified [B6.129-Trp53tm1Brd (N5) Haploinsufficient] Mice (Drinking Water Studies)
NADH dehydrogenase subunit 2, partial (mitochondrion) [Rhinoptera steindachneri]
NADH dehydrogenase subunit 2, partial (mitochondrion) [Rhinoptera steindachneri]
gi|328802761|gb|AEB41035.1|

Protein
BAH and coiled-coil domain-containing protein 1 isoform X1 [Mus musculus]
BAH and coiled-coil domain-containing protein 1 isoform X1 [Mus musculus]
gi|755538749|ref|XP_011247350.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001443047	Institute of Human Genetics, University of Leipzig Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Mar 1, 2020)	biparental	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

SCV001443047

Institute of Human Genetics, University of Leipzig Medical Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Mar 1, 2020)

biparental

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	biparental	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 Institute of Human Genetics, University of Leipzig Medical Center, SCV001443047.1

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

Description

Review of the variants reported in Reuter et al., 2017, PMID: 28097321: PM2,PM3_Supporting,PM4

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

Last Updated: Aug 5, 2023

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