NM_000617.3(SLC11A2):c.*2320del AND Microcytic anemia with liver iron overload

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 14, 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:: RCV000282206.5

Allele description [Variation Report for NM_000617.3(SLC11A2):c.*2320del]

NM_000617.3(SLC11A2):c.*2320del

Gene:

SLC11A2:solute carrier family 11 member 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

12q13.12

Genomic location:

Preferred name:

NM_000617.3(SLC11A2):c.*2320del

HGVS:

NC_000012.12:g.50986013del
NG_021139.1:g.47271del
NM_000617.3:c.*2320delMANE SELECT
NM_001174125.2:c.*2320del
NM_001174126.2:c.1629+2377del
NM_001174127.2:c.1629+2377del
NM_001174128.2:c.*2320del
NM_001174129.2:c.*2320del
NM_001174130.2:c.*2320del
NM_001379446.1:c.1716+2377del
NM_001379447.2:c.1629+2377del
NM_001379448.1:c.1617+2377del
NM_001379455.1:c.*2320del
NM_001414744.1:c.*25+2295del
NM_001414745.1:c.*2320del
NM_001414746.1:c.*25+2295del
NM_001414747.1:c.1518+2377del
NM_001414748.1:c.*2320del
NM_001414749.1:c.*2320del
NM_001414750.1:c.*2320del
LRG_1160t1:c.*2320del
LRG_1160t2:c.*2320del
LRG_1160t3:c.*2320del
LRG_1160t4:c.1629+2377del
LRG_1160:g.47271del
NC_000012.11:g.51379796del
NM_000617.2:c.*2320delA
NR_033421.2:n.4039del
NR_183175.1:n.4355del
NR_183176.1:n.4192del
NR_183179.1:n.4360del

Links:

dbSNP: rs141968385

NCBI 1000 Genomes Browser:

rs141968385

Molecular consequence:

NM_000617.3:c.*2320del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001174125.2:c.*2320del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001174128.2:c.*2320del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001174129.2:c.*2320del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001174130.2:c.*2320del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001379455.1:c.*2320del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001414745.1:c.*2320del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001414748.1:c.*2320del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001414749.1:c.*2320del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001414750.1:c.*2320del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001174126.2:c.1629+2377del - intron variant - [Sequence Ontology: SO:0001627]
NM_001174127.2:c.1629+2377del - intron variant - [Sequence Ontology: SO:0001627]
NM_001379446.1:c.1716+2377del - intron variant - [Sequence Ontology: SO:0001627]
NM_001379447.2:c.1629+2377del - intron variant - [Sequence Ontology: SO:0001627]
NM_001379448.1:c.1617+2377del - intron variant - [Sequence Ontology: SO:0001627]
NM_001414744.1:c.*25+2295del - intron variant - [Sequence Ontology: SO:0001627]
NM_001414746.1:c.*25+2295del - intron variant - [Sequence Ontology: SO:0001627]
NM_001414747.1:c.1518+2377del - intron variant - [Sequence Ontology: SO:0001627]
NR_033421.2:n.4039del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_183175.1:n.4355del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_183176.1:n.4192del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_183179.1:n.4360del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Microcytic anemia with liver iron overload
Synonyms:: Anemia, hypochromic microcytic, with iron overload 1
Identifiers:: MONDO: MONDO:0008787; MedGen: C3806153; Orphanet: 83642; OMIM: 206100

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PREDICTED: Brassica napus NAC domain-containing protein 6 (LOC111204246), mRNA
PREDICTED: Brassica napus NAC domain-containing protein 6 (LOC111204246), mRNA
gi|2258270806|ref|XM_022698533.2|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000379636	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Uncertain significance (Jun 14, 2016)	germline	clinical testing	ICSL_Variant_Classification_20161018.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000379636

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Uncertain significance
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf

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 Illumina Laboratory Services, Illumina, SCV000379636.2

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

Last Updated: Apr 9, 2023

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