NM_000518.5(HBB):c.316-7C>G AND not provided

Germline classification:: Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:: Mar 8, 2022
Review status:: criteria provided, conflicting classifications

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:: RCV001284152.5

Allele description [Variation Report for NM_000518.5(HBB):c.316-7C>G]

NM_000518.5(HBB):c.316-7C>G

Genes:

LOC110006319:beta-globin gene 3' regulatory region [Gene]
HBB:hemoglobin subunit beta [Gene - OMIM - HGNC]
LOC107133510:origin of replication at HBB [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

Preferred name:

NM_000518.5(HBB):c.316-7C>G

Other names:

IVS2-844C>G

HGVS:

NC_000011.10:g.5225733G>C
NG_000007.3:g.71883C>G
NG_046672.1:g.3668G>C
NG_053049.1:g.2054G>C
NG_059281.1:g.6339C>G
NM_000518.5:c.316-7C>GMANE SELECT
LRG_1232t1:c.316-7C>G
LRG_1232:g.6339C>G
NC_000011.9:g.5246963G>C
NM_000518.4:c.316-7C>G

Links:

dbSNP: rs34483965

NCBI 1000 Genomes Browser:

rs34483965

Molecular consequence:

NM_000518.5:c.316-7C>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001469778	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Uncertain significance (Nov 12, 2019)	unknown	clinical testing	PubMed (14) [See all records that cite these PMIDs] 11943067, 9234571, 7819068, 12189174, 22975760, 21892914, 20704537, 11857746, 10606872, 8952150, 8562944, 7558879, 2001456, 26467025
SCV003439765	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Mar 8, 2022)	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

SCV001469778

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Uncertain significance
(Nov 12, 2019)

unknown

clinical testing

PubMed (14)
[See all records that cite these PMIDs]

SCV003439765

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Mar 8, 2022)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Factors regulating Hb F synthesis in thalassemic diseases.

Mastropietro F, Modiano G, Cappabianca M, Foglietta E, D'Asero C, Mezzabotta M, Ponzini D, Maffei L, Amato A, Lerone M, Grisanti P, Di Biagio P, Rinaldi S, Bianco I.

BMC Blood Disord. 2002 Feb 6;2(1):2.

PubMed [citation]

PMID:: 11943067
PMCID:: PMC101377

Silent thalassemias: genotypes and phenotypes.

Bianco I, Cappabianca MP, Foglietta E, Lerone M, Deidda G, Morlupi L, Grisanti P, Ponzini D, Rinaldi S, Graziani B.

Haematologica. 1997 May-Jun;82(3):269-80.

PubMed [citation]

PMID:: 9234571

See all PubMed Citations (15)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001469778.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (14)

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

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003439765.2

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

Last Updated: Sep 29, 2024

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