NM_006306.4(SMC1A):c.796AAG[2] (p.Lys268del) AND multiple conditions

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 1, 2017
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:: RCV000626897.3

Allele description [Variation Report for NM_006306.4(SMC1A):c.796AAG[2] (p.Lys268del)]

NM_006306.4(SMC1A):c.796AAG[2] (p.Lys268del)

Gene:

SMC1A:structural maintenance of chromosomes 1A [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

Xp11.22

Genomic location:

Preferred name:

NM_006306.4(SMC1A):c.796AAG[2] (p.Lys268del)

HGVS:

NC_000023.11:g.53412952TCT[2]
NG_006988.2:g.14713AAG[2]
NM_001281463.1:c.730AAG[2]
NM_006306.4:c.796AAG[2]MANE SELECT
NM_006306.4:c.802_804del
NP_001268392.1:p.Lys246del
NP_006297.2:p.Lys268del
LRG_773t1:c.730AAG[2]
LRG_773:g.14713AAG[2]
LRG_773p1:p.Lys246del
NC_000023.10:g.53439902TCT[2]
NM_006306.2:c.802_804del
NM_006306.3:c.802_804delAAG
NM_006306.4:c.802_804delMANE SELECT
NM_006306.4:c.802_804delAAGMANE SELECT
c.802_804del(p.K268del)

Protein change:

K246del

Links:

dbSNP: rs727503773

NCBI 1000 Genomes Browser:

rs727503773

Molecular consequence:

NM_001281463.1:c.730AAG[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_006306.4:c.796AAG[2] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: Global developmental delay (DD)
Identifiers:: MedGen: C0557874; Human Phenotype Ontology: HP:0001263

Name:: Hirsutism
Identifiers:: MedGen: C0019572; Human Phenotype Ontology: HP:0001007

Name:: Hypertonia
Identifiers:: MedGen: C0026826; Human Phenotype Ontology: HP:0001276

Name:: Microcephaly
Synonyms:: Microcephaly (disease)
Identifiers:: MONDO: MONDO:0001149; MedGen: C4551563; Human Phenotype Ontology: HP:0000252

Name:: Progressive sensorineural hearing impairment
Identifiers:: MedGen: C1843156; Human Phenotype Ontology: HP:0000408

Name:: Abnormal heart valve morphology
Identifiers:: MedGen: C0241654; Human Phenotype Ontology: HP:0001654

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000747600	Centre for Mendelian Genomics, University Medical Centre Ljubljana	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jan 1, 2017)	unknown	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

SCV000747600

Centre for Mendelian Genomics, University Medical Centre Ljubljana

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jan 1, 2017)

unknown

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	unknown	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 Centre for Mendelian Genomics, University Medical Centre Ljubljana, SCV000747600.1

#	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	unknown	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 13, 2023

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