NM_000477.7(ALB):c.1794dup (p.Leu599fs) AND Alloalbuminemia

Germline classification:: not provided (1 submission)
Review status:: no classification provided

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:: RCV000144402.1

Allele description [Variation Report for NM_000477.7(ALB):c.1794dup (p.Leu599fs)]

NM_000477.7(ALB):c.1794dup (p.Leu599fs)

Gene:

ALB:albumin [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

4q13.3

Genomic location:

Preferred name:

NM_000477.7(ALB):c.1794dup (p.Leu599fs)

Other names:

Albumin Kenitra

HGVS:

NC_000004.12:g.73420262dup
NG_009291.1:g.21008dup
NM_000477.7:c.1794dupMANE SELECT
NP_000468.1:p.Leu599fs
NC_000004.11:g.74285979dup
NM_000477.3:c.1794dupA

Protein change:

L599fs

Links:

dbSNP: rs75000326

NCBI 1000 Genomes Browser:

rs75000326

Molecular consequence:

NM_000477.7:c.1794dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Alloalbuminemia
Identifiers:: MedGen: CN220290

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000189457	ClinVar Staff, National Center for Biotechnology Information (NCBI)	no classification provided	not provided	unknown	not provided	PubMed (2) [See all records that cite these PMIDs] 11168369, 15680241

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000189457

ClinVar Staff, National Center for Biotechnology Information (NCBI)

no classification provided

not provided

unknown

not provided

PubMed (2)
[See all records that cite these PMIDs]

Description

O-glycosylated at Thr620;low thermal stability: SCV000189457

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	not provided	not provided	not provided	not provided	1	not provided	literature only

Citations

PubMed

A nucleotide insertion and frameshift cause albumin Kénitra, an extended and O-glycosylated mutant of human serum albumin with two additional disulfide bridges.

Minchiotti L, Campagnoli M, Rossi A, Cosulich ME, Monti M, Pucci P, Kragh-Hansen U, Granel B, Disdier P, Weiller PJ, Galliano M.

Eur J Biochem. 2001 Jan;268(2):344-52.

PubMed [citation]

PMID:: 11168369

Effect of genetic variation on the thermal stability of human serum albumin.

Kragh-Hansen U, Saito S, Nishi K, Anraku M, Otagiri M.

Biochim Biophys Acta. 2005 Feb 14;1747(1):81-8. Epub 2004 Oct 19.

PubMed [citation]

PMID:: 15680241

Details of each submission

From ClinVar Staff, National Center for Biotechnology Information (NCBI), SCV000189457.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	not provided	PubMed (2)

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

Last Updated: Apr 23, 2022

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